GenomeX Data Exchange FHIR IG
0.2.0 - draft
GenomeX Data Exchange FHIR IG, published by MITRE. This guide is not an authorized publication; it is the continuous build for version 0.2.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/CodeX-HL7-FHIR-Accelerator/GenomeX-DataExchange/ and changes regularly. See the Directory of published versions
Generated Narrative: Bundle PrenatalCollectionBundlePartnered
Bundle PrenatalCollectionBundlePartnered of type collection
Entry 1 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PractitionerLabDirector
Resource Practitioner:
Generated Narrative: Practitioner PractitionerLabDirector
identifier: National provider identifier/1750369955 (use: official, )
active: true
name: PractitionerJane Smith
gender: Female
address: Address 123 Boston MA 12345
Qualifications
Code Laboratory Director
Entry 2 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PatientMale
Resource Patient:
Generated Narrative: Patient PatientMale
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
Higado Sobreviviente (official) Male, DoB: 1996-05-13 ( Patient ID: fec6172efdca41b4a13341e75cb62e0f (use: official, ))
Active: true Contact Detail US (home)
Entry 3 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PatientFemale
Resource Patient:
Generated Narrative: Patient PatientFemale
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
Jenny M (official) Female, DoB: 1988-02-12 ( Patient ID: 7fb905f171204b94b8ee33d33cb624e6 (use: official, ))
Active: true Contact Detail US (home)
Entry 4 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalVariant1CNVFactorXiDeficiencyPatientMale
Resource Observation:
Generated Narrative: Observation PrenatalVariant1CNVFactorXiDeficiencyPatientMale
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
Profile: Variant
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
value: Present
method: Sequencing
component
code: Genetic variation clinical significance [Imp]
value: Likely pathogenic
component
code: Genomic source class [Type]
value: Germline
component
code: Genomic structural variant copy number
value: 0 1 (Details: UCUM code1 = '1')
component
code: Genomic reference sequence identifier
value: NM_000128.3
component
code: Gene studied [ID]
value: F11
Entry 5 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalVariantFactorXiDeficiencyPatientFemale
Resource Observation:
Generated Narrative: Observation PrenatalVariantFactorXiDeficiencyPatientFemale
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
Profile: Variant
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
value: Absent
method: Sequencing
component
code: Human reference sequence assembly version
value: GRCh37
component
code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method
value: Chromosome 4
component
code: Gene studied [ID]
value: F11
Entry 6 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalVariantPrimaryHyperoxaluriaPatientMale
Resource Observation:
Generated Narrative: Observation PrenatalVariantPrimaryHyperoxaluriaPatientMale
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Variant
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
value: Absent
method: Sequencing
component
code: Human reference sequence assembly version
value: GRCh37
component
code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method
value: Chromosome 2
component
code: Gene studied [ID]
value: AGXT
Entry 7 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalVariantGlycogenStorageDiseaseTypePatientMale
Resource Observation:
Generated Narrative: Observation PrenatalVariantGlycogenStorageDiseaseTypePatientMale
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Variant
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
value: Absent
method: Sequencing
component
code: Human reference sequence assembly version
value: GRCh37
component
code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method
value: Chromosome 1
component
code: Gene studied [ID]
value: AGL
Entry 8 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalVariantPrimaryHyperoxaluriaPatientFemale
Resource Observation:
Generated Narrative: Observation PrenatalVariantPrimaryHyperoxaluriaPatientFemale
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Variant
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
value: Absent
method: Sequencing
component
code: Human reference sequence assembly version
value: GRCh37
component
code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method
value: Chromosome 2
component
code: Gene studied [ID]
value: AGXT
Entry 9 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalVariantGlycogenStorageDiseaseTypePatientFemale
Resource Observation:
Generated Narrative: Observation PrenatalVariantGlycogenStorageDiseaseTypePatientFemale
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Variant
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
value: Absent
method: Sequencing
component
code: Human reference sequence assembly version
value: GRCh37
component
code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method
value: Chromosome 1
component
code: Gene studied [ID]
value: AGL
Entry 10 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalResidualRiskFactorXiDeficiencyPatientMale
Resource RiskAssessment:
Generated Narrative: RiskAssessment PrenatalResidualRiskFactorXiDeficiencyPatientMale
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
status: Final
occurrence: 2024-06-26
basis: Observation Genetic variant assessment
Predictions
Outcome Probability[x] Patient has a disease-causing mutation for factor XI deficiency 1
Entry 11 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalResidualRiskFactorXiDeficiencyPatientFemale
Resource RiskAssessment:
Generated Narrative: RiskAssessment PrenatalResidualRiskFactorXiDeficiencyPatientFemale
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
status: Final
occurrence: 2024-06-26
basis: Observation Genetic variant assessment
Predictions
Outcome Probability[x] Patient has a disease-causing mutation for factor XI deficiency 0.00002001971942313081
Entry 12 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalGroupPatientFemaleandPatientMale
Resource Group:
Generated Narrative: Group PrenatalGroupPatientFemaleandPatientMale
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
type: Person
member
period: 2024-06-26 --> (ongoing)
inactive: false
member
period: 2024-06-26 --> (ongoing)
inactive: false
Entry 13 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalResidualRiskPrimaryHyperoxaluriaPatientMale
Resource RiskAssessment:
Generated Narrative: RiskAssessment PrenatalResidualRiskPrimaryHyperoxaluriaPatientMale
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
status: Final
occurrence: 2024-06-26
basis: Observation Genetic variant assessment
Predictions
Outcome Probability[x] Patient has a disease-causing mutation for primary hyperoxaluria type 1 0.000057899661704325044
Entry 14 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalVariant1SNPHereditaryHemochromatoPatientMale
Resource Observation:
Generated Narrative: Observation PrenatalVariant1SNPHereditaryHemochromatoPatientMale
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
Profile: Variant
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
value: Present
method: Sequencing
component
code: Genetic variation clinical significance [Imp]
value: Pathogenic
component
code: Genomic source class [Type]
value: Germline
component
code: Variant category
value: Simple variant
component
code: Allelic state
value: Heterozygous
component
code: DNA change (c.HGVS)
value: NM_000410.3(HFE):c.845G>A(C282Y) heterozygote
component
code: Transcript reference sequence [ID]
value: NM_000410.3
component
code: DNA change type
value: Substitution
component
code: Genomic reference sequence identifier
value: NM_000410.3
component
code: Gene studied [ID]
value: HFE
Entry 15 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalResidualRiskGlycogenStorageDiseasePatientMale
Resource RiskAssessment:
Generated Narrative: RiskAssessment PrenatalResidualRiskGlycogenStorageDiseasePatientMale
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
status: Final
occurrence: 2024-06-26
basis: Observation Genetic variant assessment
Predictions
Outcome Probability[x] Patient has a disease-causing mutation for glycogen storage disease type III 0.00006344316872889103
Entry 16 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PractitionerOrderingProvider
Resource Practitioner:
Generated Narrative: Practitioner PractitionerOrderingProvider
active: true
name: Laura Salma
address: 123 Main St. San Francisco CA 94080
Entry 17 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalGenomicStudyAnalysisFactorXiDeficiencyPatientMale
Resource Procedure:
Generated Narrative: Procedure PrenatalGenomicStudyAnalysisFactorXiDeficiencyPatientMale
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Genomic Study Analysis
org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class: Germline
Genomic Study Analysis Genome Build: GRCh37
Genomic Study Analysis Regions
- description: Exons sequenced
- studied: Exons: NM_000128:2-15
Genomic Study Analysis Regions
- description: Genes studied
- studied: F11
Genomic Study Analysis Method Type: Copy number variation analysis in Blood or Tissue by Sequencing
Genomic Study Analysis Method Type: Sequence analysis of select exons
status: Completed
note: factor XI deficiency - F11. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European >99%, No disease-causing mutations were detected in any other gene tested for factor XI deficiency, Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024, Report content approved by Krista Moyer, MGC on Jun 26, 2024
Entry 18 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalGenomicStudyAnalysisHereditaryHemochromatoPatientMale
Resource Procedure:
Generated Narrative: Procedure PrenatalGenomicStudyAnalysisHereditaryHemochromatoPatientMale
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Genomic Study Analysis
org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class: Germline
Genomic Study Analysis Genome Build: GRCh37
Genomic Study Analysis Regions
- description: Genes studied
- studied: HFE
Genomic Study Analysis Method Type: Sequence analysis of select exons
status: Completed
note: HFE-associated hereditary hemochromatosis - HFE. Autosomal recessive inheritance. targeted genotyping. Detection rate: Not calculated due to rarity of disease in this individual's reported ethnicity, No disease-causing mutations were detected in any other gene tested for HFE-associated hereditary hemochromatosis, Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024, Report content approved by Krista Moyer, MGC on Jun 26, 2024
Entry 19 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalGenomicStudyAnalysisGlycogenStorageDiseasePatientMale
Resource Procedure:
Generated Narrative: Procedure PrenatalGenomicStudyAnalysisGlycogenStorageDiseasePatientMale
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Genomic Study Analysis
org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class: Germline
Genomic Study Analysis Genome Build: GRCh37
Genomic Study Analysis Regions
- description: Exons sequenced
- studied: Exons: NM_000642:2-34
Genomic Study Analysis Regions
- description: Genes studied
- studied: AGL
Genomic Study Analysis Method Type: Copy number variation analysis in Blood or Tissue by Sequencing
Genomic Study Analysis Method Type: Sequence analysis of select exons
status: Completed
note: glycogen storage disease type III - AGL. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European >99%, No disease-causing mutations were detected in any other gene tested for glycogen storage disease type III, Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024, Report content approved by Krista Moyer, MGC on Jun 26, 2024
Entry 20 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalGenomicStudyAnalysisPrimaryHyperoxaluriaPatientMale
Resource Procedure:
Generated Narrative: Procedure PrenatalGenomicStudyAnalysisPrimaryHyperoxaluriaPatientMale
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Genomic Study Analysis
org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class: Germline
Genomic Study Analysis Genome Build: GRCh37
Genomic Study Analysis Regions
- description: Exons sequenced
- studied: Exons: NM_000030:1-11
Genomic Study Analysis Regions
- description: Genes studied
- studied: AGXT
Genomic Study Analysis Method Type: Copy number variation analysis in Blood or Tissue by Sequencing
Genomic Study Analysis Method Type: Sequence analysis of select exons
status: Completed
note: primary hyperoxaluria type 1 - AGXT. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European >99%, No disease-causing mutations were detected in any other gene tested for primary hyperoxaluria type 1, Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024, Report content approved by Krista Moyer, MGC on Jun 26, 2024
Entry 21 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalVariant2FragileXSyndromePatientFemale
Resource Observation:
Generated Narrative: Observation PrenatalVariant2FragileXSyndromePatientFemale
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
Profile: Variant
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
value: Present
method: Sequencing
component
code: Genetic variation clinical significance [Imp]
value: FMR1 gene premutation/premutation+full mutation in Blood by Molecular genetics method
component
code: Genomic source class [Type]
value: Germline
component
Repeat Motif Order: 1
code: Repeat Expansion Motif
value: GGC
component
Repeat Motif Order: 1
code: Number of Repeat Expansions
value: 92
component
code: Allelic state
value: Heterozygous
component
code: Gene studied [ID]
value: FMR1
Entry 22 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalVariant1FragileXSyndromePatientFemale
Resource Observation:
Generated Narrative: Observation PrenatalVariant1FragileXSyndromePatientFemale
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
Profile: Variant
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
value: Present
method: Sequencing
component
code: Genetic variation clinical significance [Imp]
value: FMR1 gene premutation/premutation+full mutation in Blood by Molecular genetics method
component
code: Genomic source class [Type]
value: Germline
component
Repeat Motif Order: 1
code: Repeat Expansion Motif
value: GGC
component
Repeat Motif Order: 1
code: Number of Repeat Expansions
value: 24
component
code: Allelic state
value: Heterozygous
component
code: Gene studied [ID]
value: FMR1
Entry 23 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalResidualRiskPrimaryHyperoxaluriaPatientFemale
Resource RiskAssessment:
Generated Narrative: RiskAssessment PrenatalResidualRiskPrimaryHyperoxaluriaPatientFemale
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
status: Final
occurrence: 2024-06-26
basis: Observation Genetic variant assessment
Predictions
Outcome Probability[x] Patient has a disease-causing mutation for primary hyperoxaluria type 1 0.000057899661704325044
Entry 24 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalVariant2SNPHereditaryHemochromatoPatientFemale
Resource Observation:
Generated Narrative: Observation PrenatalVariant2SNPHereditaryHemochromatoPatientFemale
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
Profile: Variant
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
value: Present
method: Sequencing
component
code: Genetic variation clinical significance [Imp]
value: Pathogenic
component
code: Genomic source class [Type]
value: Germline
component
code: Variant category
value: Simple variant
component
code: Allelic state
value: Heterozygous
component
code: DNA change (c.HGVS)
value: NM_000410.3(HFE):c.187C>G(H63D) heterozygote
component
code: Transcript reference sequence [ID]
value: NM_000410.3
component
code: DNA change type
value: Substitution
component
code: Genomic reference sequence identifier
value: NM_000410.3
component
code: Gene studied [ID]
value: HFE
Entry 25 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalVariant1SNPHereditaryHemochromatoPatientFemale
Resource Observation:
Generated Narrative: Observation PrenatalVariant1SNPHereditaryHemochromatoPatientFemale
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
Profile: Variant
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
value: Present
method: Sequencing
component
code: Genetic variation clinical significance [Imp]
value: Pathogenic
component
code: Genomic source class [Type]
value: Germline
component
code: Variant category
value: Simple variant
component
code: Allelic state
value: Heterozygous
component
code: DNA change (c.HGVS)
value: NM_000410.3(HFE):c.845G>A(C282Y) heterozygote
component
code: Transcript reference sequence [ID]
value: NM_000410.3
component
code: DNA change type
value: Substitution
component
code: Genomic reference sequence identifier
value: NM_000410.3
component
code: Gene studied [ID]
value: HFE
Entry 26 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalResidualRiskGlycogenStorageDiseasePatientFemale
Resource RiskAssessment:
Generated Narrative: RiskAssessment PrenatalResidualRiskGlycogenStorageDiseasePatientFemale
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
status: Final
occurrence: 2024-06-26
basis: Observation Genetic variant assessment
Predictions
Outcome Probability[x] Patient has a disease-causing mutation for glycogen storage disease type III 0.00006344316872889103
Entry 27 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalGenomicStudyAnalysisFragileXSyndromePatientFemale
Resource Procedure:
Generated Narrative: Procedure PrenatalGenomicStudyAnalysisFragileXSyndromePatientFemale
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Genomic Study Analysis
org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class: Germline
Genomic Study Analysis Genome Build: GRCh37
Genomic Study Analysis Regions
- description: Genes studied
- studied: FMR1
Genomic Study Analysis Method Type: FMR1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
status: Completed
note: fragile X syndrome - FMR1. X-linked inheritance (recessive). triplet repeat detection. Detection rate: Northern European >99%, No disease-causing mutations were detected in any other gene tested for fragile X syndrome, Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024, Report content approved by Krista Moyer, MGC on Jun 26, 2024
Entry 28 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalGenomicStudyAnalysisFactorXiDeficiencyPatientFemale
Resource Procedure:
Generated Narrative: Procedure PrenatalGenomicStudyAnalysisFactorXiDeficiencyPatientFemale
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Genomic Study Analysis
org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class: Germline
Genomic Study Analysis Genome Build: GRCh37
Genomic Study Analysis Regions
- description: Exons sequenced
- studied: Exons: NM_000128:2-15
Genomic Study Analysis Regions
- description: Genes studied
- studied: F11
Genomic Study Analysis Method Type: Copy number variation analysis in Blood or Tissue by Sequencing
Genomic Study Analysis Method Type: Sequence analysis of select exons
status: Completed
note: factor XI deficiency - F11. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European >99%, No disease-causing mutations were detected in any other gene tested for factor XI deficiency, Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024, Report content approved by Krista Moyer, MGC on Jun 26, 2024
Entry 29 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalGenomicStudyAnalysisHereditaryHemochromatoPatientFemale
Resource Procedure:
Generated Narrative: Procedure PrenatalGenomicStudyAnalysisHereditaryHemochromatoPatientFemale
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Genomic Study Analysis
org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class: Germline
Genomic Study Analysis Genome Build: GRCh37
Genomic Study Analysis Regions
- description: Genes studied
- studied: HFE
Genomic Study Analysis Method Type: Sequence analysis of select exons
status: Completed
note: HFE-associated hereditary hemochromatosis - HFE. Autosomal recessive inheritance. targeted genotyping. Detection rate: Not calculated due to rarity of disease in this individual's reported ethnicity, No disease-causing mutations were detected in any other gene tested for HFE-associated hereditary hemochromatosis, Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024, Report content approved by Krista Moyer, MGC on Jun 26, 2024
Entry 30 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalGenomicStudyAnalysisGlycogenStorageDiseasePatientFemale
Resource Procedure:
Generated Narrative: Procedure PrenatalGenomicStudyAnalysisGlycogenStorageDiseasePatientFemale
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Genomic Study Analysis
org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class: Germline
Genomic Study Analysis Genome Build: GRCh37
Genomic Study Analysis Regions
- description: Exons sequenced
- studied: Exons: NM_000642:2-34
Genomic Study Analysis Regions
- description: Genes studied
- studied: AGL
Genomic Study Analysis Method Type: Copy number variation analysis in Blood or Tissue by Sequencing
Genomic Study Analysis Method Type: Sequence analysis of select exons
status: Completed
note: glycogen storage disease type III - AGL. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European >99%, No disease-causing mutations were detected in any other gene tested for glycogen storage disease type III, Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024, Report content approved by Krista Moyer, MGC on Jun 26, 2024
Entry 31 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalGenomicStudyAnalysisPrimaryHyperoxaluriaPatientFemale
Resource Procedure:
Generated Narrative: Procedure PrenatalGenomicStudyAnalysisPrimaryHyperoxaluriaPatientFemale
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Genomic Study Analysis
org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class: Germline
Genomic Study Analysis Genome Build: GRCh37
Genomic Study Analysis Regions
- description: Exons sequenced
- studied: Exons: NM_000030:1-11
Genomic Study Analysis Regions
- description: Genes studied
- studied: AGXT
Genomic Study Analysis Method Type: Copy number variation analysis in Blood or Tissue by Sequencing
Genomic Study Analysis Method Type: Sequence analysis of select exons
status: Completed
note: primary hyperoxaluria type 1 - AGXT. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European >99%, No disease-causing mutations were detected in any other gene tested for primary hyperoxaluria type 1, Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024, Report content approved by Krista Moyer, MGC on Jun 26, 2024
Entry 32 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalReproductivePostRiskFactorXiDeficiencyCouple
Resource RiskAssessment:
Generated Narrative: RiskAssessment PrenatalReproductivePostRiskFactorXiDeficiencyCouple
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
status: Final
subject: Group: type = person; actual = true
occurrence: 2024-06-26
basis:
- RiskAssessment: status = final; occurrence[x] = 2024-06-26
- Jenny M (official) Female, DoB: 1988-02-12 ( Patient ID: 7fb905f171204b94b8ee33d33cb624e6 (use: official, ))
- RiskAssessment: status = final; occurrence[x] = 2024-06-26
- Higado Sobreviviente (official) Male, DoB: 1996-05-13 ( Patient ID: fec6172efdca41b4a13341e75cb62e0f (use: official, ))
Predictions
Outcome Probability[x] Reproductive risk for inheriting a disease-causing mutation for factor XI deficiency after Prenatal test 0.0000050050050045035165 note: Residual risk is an estimate of each patient's post-test likelihood of being a carrier, while the reproductive risk represents an estimated likelihood that the patients' future children could inherit each disease. These risks are inherent to all carrier-screening tests, may vary by ethnicity, are predicated on a negative family history, and are present even given a negative test result. Inaccurate reporting of ethnicity may cause errors in risk calculation. In addition, average carrier rates are estimated using incidence or prevalence data from published scientific literature and/or reputable databases, where available, and are incorporated into residual risk calculations for each population/ethnicity. When population-specific data is not available for a condition, average worldwide incidence or prevalence is used. Further, incidence and prevalence data are only collected for the specified phenotypes (which include primarily the classic or severe forms of disease) and may not include alternate or milder disease manifestations associated with the gene. Actual incidence rates, prevalence rates, and carrier rates, and therefore actual residual risks, may be higher or lower than the estimates provided. Carrier rates, incidence/prevalence, and/or residual risks are not provided for some genes with biological or heritable properties that would make these estimates inaccurate. See the full clinical report for interpretation and details.
Entry 33 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalGenomicStudyAnalysisPrimaryHyperoxaluriaCouple
Resource Procedure:
Generated Narrative: Procedure PrenatalGenomicStudyAnalysisPrimaryHyperoxaluriaCouple
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Genomic Study Analysis
org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class: Germline
Genomic Study Analysis Genome Build: GRCh37
Genomic Study Analysis Regions
- description: Exons sequenced
- studied: Exons: NM_000030:1-11
Genomic Study Analysis Regions
- description: Genes studied
- studied: AGXT
Genomic Study Analysis Method Type: Copy number variation analysis in Blood or Tissue by Sequencing
Genomic Study Analysis Method Type: Sequence analysis of select exons
status: Completed
subject: Group: type = person; actual = true
note: primary hyperoxaluria type 1 - AGXT. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European >99%, No disease-causing mutations were detected in any other gene tested for primary hyperoxaluria type 1, Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024, Report content approved by Krista Moyer, MGC on Jun 26, 2024
Entry 34 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalGenomicStudyAnalysisHereditaryHemochromatoCouple
Resource Procedure:
Generated Narrative: Procedure PrenatalGenomicStudyAnalysisHereditaryHemochromatoCouple
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Genomic Study Analysis
org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class: Germline
Genomic Study Analysis Genome Build: GRCh37
Genomic Study Analysis Regions
- description: Genes studied
- studied: HFE
Genomic Study Analysis Method Type: Sequence analysis of select exons
status: Completed
subject: Group: type = person; actual = true
note: HFE-associated hereditary hemochromatosis - HFE. Autosomal recessive inheritance. targeted genotyping. Detection rate: Not calculated due to rarity of disease in this individual's reported ethnicity, No disease-causing mutations were detected in any other gene tested for HFE-associated hereditary hemochromatosis, Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024, Report content approved by Krista Moyer, MGC on Jun 26, 2024
Entry 35 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalGenomicStudyAnalysisGlycogenStorageDiseaseCouple
Resource Procedure:
Generated Narrative: Procedure PrenatalGenomicStudyAnalysisGlycogenStorageDiseaseCouple
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Genomic Study Analysis
org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class: Germline
Genomic Study Analysis Genome Build: GRCh37
Genomic Study Analysis Regions
- description: Exons sequenced
- studied: Exons: NM_000642:2-34
Genomic Study Analysis Regions
- description: Genes studied
- studied: AGL
Genomic Study Analysis Method Type: Copy number variation analysis in Blood or Tissue by Sequencing
Genomic Study Analysis Method Type: Sequence analysis of select exons
status: Completed
subject: Group: type = person; actual = true
note: glycogen storage disease type III - AGL. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European >99%, No disease-causing mutations were detected in any other gene tested for glycogen storage disease type III, Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024, Report content approved by Krista Moyer, MGC on Jun 26, 2024
Entry 36 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalGenomicStudyAnalysisFactorXiDeficiencyCouple
Resource Procedure:
Generated Narrative: Procedure PrenatalGenomicStudyAnalysisFactorXiDeficiencyCouple
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Genomic Study Analysis
org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class: Germline
Genomic Study Analysis Genome Build: GRCh37
Genomic Study Analysis Regions
- description: Exons sequenced
- studied: Exons: NM_000128:2-15
Genomic Study Analysis Regions
- description: Genes studied
- studied: F11
Genomic Study Analysis Method Type: Copy number variation analysis in Blood or Tissue by Sequencing
Genomic Study Analysis Method Type: Sequence analysis of select exons
status: Completed
subject: Group: type = person; actual = true
note: factor XI deficiency - F11. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European >99%, No disease-causing mutations were detected in any other gene tested for factor XI deficiency, Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024, Report content approved by Krista Moyer, MGC on Jun 26, 2024
Entry 37 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalDiagImpPrimaryHyperoxaluriaPatientMale
Resource Observation:
Generated Narrative: Observation PrenatalDiagImpPrimaryHyperoxaluriaPatientMale
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Diagnostic Implication
Genomic Risk Assessment: primary hyperoxaluria type 1 Residual Risk
status: Final
category: Laboratory, Genetics
code: Diagnostic Implication
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
derivedFrom: Observation Genetic variant assessment
component
code: Associated phenotype
value: Normal genetic findings (finding)
component
code: Associated phenotype
value: Primary hyperoxaluria, type I
component
code: Condition Inheritance
value: Autosomal recessive inheritance
Entry 38 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalDiagImpHereditaryHemochromatoPatientMale
Resource Observation:
Generated Narrative: Observation PrenatalDiagImpHereditaryHemochromatoPatientMale
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
Profile: Diagnostic Implication
status: Final
category: Laboratory, Genetics
code: Diagnostic Implication
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
note: Risk not calculated for HFE-associated hereditary hemochromatosis
derivedFrom: Observation Genetic variant assessment
component
code: Associated phenotype
value: Genetic disorder carrier (finding)
component
code: Associated phenotype
value: Hemochromatosis type 1
component
code: Condition Inheritance
value: Autosomal recessive inheritance
Entry 39 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalDiagImpGlycogenStorageDiseasePatientMale
Resource Observation:
Generated Narrative: Observation PrenatalDiagImpGlycogenStorageDiseasePatientMale
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Diagnostic Implication
Genomic Risk Assessment: glycogen storage disease type III Residual Risk
status: Final
category: Laboratory, Genetics
code: Diagnostic Implication
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
derivedFrom: Observation Genetic variant assessment
component
code: Associated phenotype
value: Normal genetic findings (finding)
component
code: Associated phenotype
value: Glycogen storage disease, type III
component
code: Condition Inheritance
value: Autosomal recessive inheritance
Entry 40 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalDiagImpFactorXiDeficiencyPatientMale
Resource Observation:
Generated Narrative: Observation PrenatalDiagImpFactorXiDeficiencyPatientMale
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
Profile: Diagnostic Implication
Genomic Risk Assessment: factor XI deficiency Residual Risk
status: Final
category: Laboratory, Genetics
code: Diagnostic Implication
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
derivedFrom: Observation Genetic variant assessment
component
code: Associated phenotype
value: Genetic disorder carrier (finding)
component
code: Associated phenotype
value: Thromboplastin antecedent deficiency
component
code: Condition Inheritance
value: Autosomal recessive inheritance
Entry 41 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalSpecimenPatientMale
Resource Specimen:
Generated Narrative: Specimen PrenatalSpecimenPatientMale
version: 1; Last updated: 2024-09-25 00:01:34+0000;
Information Source: #hrQE3dHjuHuJ5zkf
identifier:
http://www.somesystemabc.net/identifiers/specimens/55200000000223status: Available
type: Saliva specimen (specimen)
receivedTime: 2024-07-09 19:38:50+0000
Collections
Collected[x] 2024-07-04 00:00:00+0000
Entry 42 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/Organization
Resource Organization:
Generated Narrative: Organization Organization
identifier: Clinical Laboratory Improvement Amendments/12A4567890 (use: official, )
type: Healthcare Provider
name: Generic Laboratories, Inc.
contact
telecom: ph: (800) 876-5309, fax: (781) 876-5305, http://www.genericlaboratoriesinc.com, info@genericlaboratoriesinc.com
address: 321 Laboratory Court, Anytown, MA, 12345, USA
Entry 43 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalServiceRequestCouple
Resource ServiceRequest:
Generated Narrative: ServiceRequest PrenatalServiceRequestCouple
identifier: Laboratory Accession ID/G4QMWUXCGX3C
status: Active
intent: Order
code: No display for ServiceRequest.code (concept: Prenatal Test)
subject: Group: type = person; actual = true
requester: Practitioner Laura Salma
Entry 44 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalGenomicStudyPatientMale
Resource Procedure:
Generated Narrative: Procedure PrenatalGenomicStudyPatientMale
version: 2; Last updated: 2024-10-02 03:41:29+0000;
Information Source: #DEqMJP5Koyub2naR
Profile: Genomic Study
status: Completed
category: Laboratory
note: The <b>Organization Prenatal Carrier Screen</b> utilizes sequencing, maximizing coverage across all DNA regions tested, to help you learn about your chance to have a child with a genetic disease.
Entry 45 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalDiagImpFragileXSyndromePatientFemale
Resource Observation:
Generated Narrative: Observation PrenatalDiagImpFragileXSyndromePatientFemale
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
Profile: Diagnostic Implication
status: Final
category: Laboratory, Genetics
code: Diagnostic Implication
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
note: Risk not calculated for fragile X syndrome
derivedFrom:
component
code: Associated phenotype
value: Genetic disorder carrier (finding)
component
code: Associated phenotype
value: Fragile X syndrome
component
code: Condition Inheritance
value: X-linked inheritance (recessive)
Entry 46 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalDiagImpPrimaryHyperoxaluriaPatientFemale
Resource Observation:
Generated Narrative: Observation PrenatalDiagImpPrimaryHyperoxaluriaPatientFemale
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Diagnostic Implication
Genomic Risk Assessment: primary hyperoxaluria type 1 Residual Risk
status: Final
category: Laboratory, Genetics
code: Diagnostic Implication
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
derivedFrom: Observation Genetic variant assessment
component
code: Associated phenotype
value: Normal genetic findings (finding)
component
code: Associated phenotype
value: Primary hyperoxaluria, type I
component
code: Condition Inheritance
value: Autosomal recessive inheritance
Entry 47 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalDiagImpHereditaryHemochromatoPatientFemale
Resource Observation:
Generated Narrative: Observation PrenatalDiagImpHereditaryHemochromatoPatientFemale
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
Profile: Diagnostic Implication
status: Final
category: Laboratory, Genetics
code: Diagnostic Implication
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
note: Risk not calculated for HFE-associated hereditary hemochromatosis
derivedFrom:
component
code: Associated phenotype
value: Genetic disease (disorder)
component
code: Associated phenotype
value: Hemochromatosis type 1
component
code: Condition Inheritance
value: Autosomal recessive inheritance
Entry 48 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalDiagImpGlycogenStorageDiseasePatientFemale
Resource Observation:
Generated Narrative: Observation PrenatalDiagImpGlycogenStorageDiseasePatientFemale
version: 1; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Diagnostic Implication
Genomic Risk Assessment: glycogen storage disease type III Residual Risk
status: Final
category: Laboratory, Genetics
code: Diagnostic Implication
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
derivedFrom: Observation Genetic variant assessment
component
code: Associated phenotype
value: Normal genetic findings (finding)
component
code: Associated phenotype
value: Glycogen storage disease, type III
component
code: Condition Inheritance
value: Autosomal recessive inheritance
Entry 49 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalDiagImpFactorXiDeficiencyPatientFemale
Resource Observation:
Generated Narrative: Observation PrenatalDiagImpFactorXiDeficiencyPatientFemale
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
Profile: Diagnostic Implication
Genomic Risk Assessment: factor XI deficiency Residual Risk
status: Final
category: Laboratory, Genetics
code: Diagnostic Implication
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
derivedFrom: Observation Genetic variant assessment
component
code: Associated phenotype
value: Normal genetic findings (finding)
component
code: Associated phenotype
value: Thromboplastin antecedent deficiency
component
code: Condition Inheritance
value: Autosomal recessive inheritance
Entry 50 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalSpecimenPatientFemale
Resource Specimen:
Generated Narrative: Specimen PrenatalSpecimenPatientFemale
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
identifier:
http://www.somesystemabc.net/identifiers/specimens/11200000000702status: Available
type: Blood specimen (specimen)
receivedTime: 2024-06-26 18:19:57+0000
Collections
Collected[x] 2024-06-21 00:00:00+0000
Entry 51 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalGenomicStudyPatientFemale
Resource Procedure:
Generated Narrative: Procedure PrenatalGenomicStudyPatientFemale
version: 2; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Genomic Study
status: Completed
category: Laboratory
note: The <b>Organization Prenatal Carrier Screen</b> utilizes sequencing, maximizing coverage across all DNA regions tested, to help you learn about your chance to have a child with a genetic disease.
Entry 52 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalReprDiagImpFragileXSyndromeCouple
Resource Observation:
Generated Narrative: Observation PrenatalReprDiagImpFragileXSyndromeCouple
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
Profile: Diagnostic Implication
status: Final
category: Laboratory, Genetics
code: Diagnostic Implication
subject: Group: type = person; actual = true
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
note: Risk not calculated for fragile X syndrome, ## What is fragile X syndrome?\n\nFragile X syndrome (FXS), caused by extra CGG repeats in the _FMR1_ gene, is a condition that causes a variety of developmental and behavioral problems. Fragile X syndrome is an X-linked disease. This means that the _FMR1_ gene is on the X-chromosome. Males have one copy of the X-chromosome, while females have two copies. Because males only have one copy, a harmful change in the _FMR1_ gene typically causes more severe symptoms in males. Carrier females may be asymptomatic or may exhibit symptoms. Fragile X syndrome is the most common inherited form of intellectual disability. It is the leading single-gene cause of autism spectrum disorders.\n\nFragile X syndrome typically causes moderate intellectual disability (defined as an IQ below 70) in males. However, the severity of intellectual impairment varies from individual to individual. A few male patients do not have an intellectual disability. About one-third of females with fragile X syndrome have a mild intellectual disability.\n\nAs infants, children with fragile X syndrome may have weak muscles (hypotonia), stomach acid that comes up into the mouth (gastric reflux), and frequent ear infections. Their motor, mental, and speech milestones tend to be delayed. Children with fragile X syndrome often have behavioral problems such as anxiety, hyperactivity, hand flapping, biting, and temper tantrums. About one-third of males with fragile X syndrome have autism or autism-like behavior. Symptomatic females usually have milder symptoms than males. Behavioral problems in females may appear as depression, shyness, and avoidance of social situations. Some individuals with the condition have attention deficit disorder and cannot sustain focused attention on a specific task. Individuals with fragile X syndrome, particularly males, may lack impulse control, make poor eye contact, and be easily distracted.\n\nMales with fragile X syndrome often share characteristic physical features such as a long, narrow face with a prominent jaw and forehead, a large head, flexible joints, and large ears. These features become more apparent with age. These characteristics tend to be milder or absent in females with the condition. After puberty, males with fragile X syndrome typically have enlarged testicles.\n\nRoughly 15% of males and 5% of females with fragile X syndrome will experience seizures. While some experience heart murmurs (known as mitral valve prolapse), it is usually harmless and may not require treatment.\n\n#### Effects of a premutation\n\nMales and females with a premutation do not have fragile X syndrome but may experience specific physical symptoms. The main risks for carriers of a premutation are fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated premature ovarian insufficiency (FXPOI), and fragile X-associated neuropsychiatric disorders (FXAND).\n\n_Fragile X-associated tremor/ataxia syndrome (FXTAS)_: FXTAS causes an inability to coordinate muscle movements that worsens over time (ataxia), tremors, memory loss, impaired ability to think or remember information (dementia), a loss of feeling and weakness in the lower legs, and some mental and behavioral changes. Approximately 40% of males over 50 years of age with a fragile X premutation will develop FXTAS. Between 8-16% of females with a fragile X premutation are affected by FXTAS. Typically, symptoms of FXTAS begin around age 60 with a tremor, followed several years later by the inability to coordinate muscle movements. \n\n_Fragile X-associated primary ovarian insufficiency (FXPOI)_: About 20% of females with a premutation experience FXPOI. This condition causes their menstrual periods to stop before age 40. Females with FXPOI will often have difficulty getting pregnant, and many will not be able to have children. Females with a full mutation are not at increased risk for POI.\n\n_Fragile X-associated neuropsychiatric disorders (FXAND)_: There is an increased rate of neuropsychiatric conditions among premutation carriers. These include depression, generalized and social anxiety, and attention deficit disorder. \n\n## How is fragile X syndrome inherited?\n\n**Fragile X syndrome is inherited in an X-linked manner. The inheritance is much more complex than many other genetic diseases. A healthcare professional, such as a genetic counselor, can help answer questions about this condition and the risk of transmitting it to the next generation.**\n\nFragile X syndrome is caused by changes in the _FMR1_ gene, which is located on the X-chromosome. This gene contains a segment of DNA called the "CGG repeat." The CGG repeat in the _FMR1_ gene is a pattern of DNA that repeats itself many times. By counting the number of CGG repeats in the parents, one can determine the likelihood that a child will have fragile X syndrome.\n\nThe CGG repeat in the _FMR1_ gene falls into one of the following four categories:\n\n| Category | _FMR1_ CGG repeat size |\n| ------------- | ------------- |\n| Normal | 5 to 44 repeats |\n| Intermediate | 45 to 54 repeats |\n| Premutation | 55 to 200 repeats |\n| Full mutation | More than 200 repeats |\n\n#### Normal\n\nAn _FMR1_ gene with 5 to 44 CGG repeats is considered normal. Individuals with this number of _FMR1_ CGG repeats do not have an increased chance of having a child with fragile X syndrome. CGG repeats in this range are considered stable because they usually pass from parent to child with the same number of repeats. For example, if a parent\'s gene has 30 CGG repeats, their child will likely have a gene with 30 CGG repeats.\n\n#### Intermediate\n\nAn individual with 45 to 54 repeats is not expected to have an increased chance of passing on fragile X syndrome to their child, but the number of repeats transmitted to the next generation may increase slightly. \n\n#### Premutation\n\nIndividuals with 55 to 200 CGG repeats have a premutation. They do not have symptoms of fragile X syndrome. However, they are at increased risk for FXTAS, FXPOI, and FXAND. Depending on which parent has the premutation, future children may be at risk of having fragile X syndrome.\n\n#### Full mutation\n\nIndividuals with more than 200 CGG repeats have a non-functioning _FMR1_ gene (also known as a full mutation). Males with more than 200 CGG repeats usually have symptoms of fragile X syndrome. Females with more than 200 CGG repeats may also have symptoms of fragile X syndrome and are at risk of passing the condition on to their children.\n\n### What does it mean to have an intermediate result? \n\nAn FMR1 gene that has 45-54 repeats is considered intermediate. The number of CGG repeats is higher than normal but not large enough to be considered a premutation. Sometimes CGG repeats in the intermediate range are referred to as "gray zone" results. Individuals with an intermediate repeat do not have an increased chance of having a child with fragile X syndrome. Most intermediate genes are stable and do not significantly expand when passed on. However, repeats in the intermediate range may slightly expand when passed on to the next generation in some cases. For example, a parent with 45 CGG repeats could have a child with 50 CGG repeats. If the number of repeats continues to increase, future generations (i.e., grandchildren or great-grandchildren) may have a chance of inheriting fragile X. Expansion to a full mutation in one generation from a maternal gene with fewer than 56 repeats has not been reported. Children of individuals with an intermediate result may consider fragile X testing to determine their CGG repeat sizes once they are adults for reproductive planning purposes.\n\nApproximately 3% of patients undergoing fragile X carrier screening will have an intermediate result. Individuals with an intermediate repeat do NOT have an increased chance of having the physical symptoms affecting premutation carriers such as FXTAS, FXPOI, and FXAND.\n\n### What does it mean to have a premutation or full mutation? What is the chance that a child will have fragile X syndrome?\n\nFor females with a full mutation, 50% of their children will also inherit the full mutation and be at risk for symptoms of fragile X syndrome. Males who have full mutations typically do not reproduce.\n\nPremutations are more complicated. When the parent has a premutation, the risk of a child developing fragile X syndrome depends on the answers to the following questions:\n\n1. Which parent has the premutation?\n2. Will the child inherit the premutation?\n3. Will the premutation expand to a full mutation?\n\n#### Which parent has the premutation?\n\nFemales that are premutation carriers are at risk of having children with fragile X syndrome. Premutations inherited from a female can be unstable and may expand to become full mutations in the child. This risk can be modified by AGG interruptions, which reduce the likelihood of expansion.\n\nPremutations passed from a male parent may change the CGG repeat number. However, premutations do not expand to full mutations when passed from a male parent. Therefore, males with premutations are not at risk of having children with fragile X syndrome.\n\n#### Will the child inherit the premutation?\n\nPremutations are not thought to expand to full mutations when passed from a male parent to a female child. However, there can be a change in the number of CGG repeats. These female children are generally not at risk of having fragile X syndrome, but their future children (the grandchildren of the original premutation carrier) will be at risk. Male parents pass a Y chromosome to their male children instead of an X, so fragile X premutations are not passed from a male parent to a male child.\n\nIf a female parent has a premutation on one of their X chromosomes, there is a 50% chance in each pregnancy that their child will inherit the X chromosome with the premutation and a 50% chance that they will not. Only children who inherit the X chromosome with the premutation would be at risk for fragile X syndrome if it expands.\n\n\n#### Will the premutation expand to a full mutation?\n\nIf a female parent has a gene with a premutation that gets passed to their children, there are two possibilities:\n\n1. The premutation does not expand beyond 200 repeats and remains a premutation in the child. That child has no symptoms of fragile X syndrome but may experience FXAND and FXTAS or FXPOI as adults.\n2. The premutation expands into a full mutation, causing fragile X syndrome in males and risk for fragile X syndrome in females.\n\nRarely, a CGG repeat may contract (or reduce in number). Therefore, there is a small possibility that a premutation could be passed on as an intermediate or normal repeat to the child.\n\nThe greater the number of CGG repeats a female has, the more unstable the gene is and the more likely it will expand to a full mutation in their children. The smallest premutation observed to expand to a full mutation in a single generation is 56 repeats.\n\n| Number of Maternal Premutation CGG Repeats | Percentage (Total Females) Which Expanded to Full Mutations |\n| ------------- | ------------- |\n| 55-59 | <1% (1/197) |\n| 60-64 | 2% (2/115) |\n| 65-69 | 7% (6/85) |\n| 70-74 | 21% (18/84) |\n| 75-79 | 47% (47/99) |\n| 80-84 | 62% (60/96) |\n| 85-90 | 81% (34/42) |\n\nMore than 94% of genes with >90 CGGs expand to a full mutation.\n\nAdapted from [Nolin et al. (2015)](https://www.ncbi.nlm.nih.gov/pubmed/25210937) and [Nolin et al. (2011)](http://www.ncbi.nlm.nih.gov/pubmed/21717484). These percentages typically exclude families with a family history of fragile X syndrome.\n\n## How Common Is Fragile X Syndrome?\n\nThe incidence of fragile X syndrome is estimated to be 1 in 4,000 males and 1 in 8,000 females.\n\n## How Is Fragile X Syndrome Treated?\n\nThere is no cure for fragile X syndrome, but children with the condition can be treated and supported in many ways depending on their particular symptoms and the severity of those symptoms. They may benefit from educational support like early developmental intervention, special education classes in school, speech therapy, occupational therapy, and behavioral therapies. A physician may prescribe medication for behavioral issues such as aggression, anxiety, or hyperactivity.\n\nA small number of these children experience seizures which can be controlled with medication. While some have a heart murmur, it is usually harmless and may not require treatment.\n\n## What Is the Prognosis for an Individual with Fragile X Syndrome?\n\nWhile many of the children with fragile X syndrome have learning and behavioral problems, they generally do not have major medical problems and can live a normal lifespan., Fragile X syndrome causes serious intellectual impairment and behavioral problems. It is the most common form of inherited intellectual disability. Due to the X-linked pattern of inheritance, fragile X syndrome is more common and more severe in males than females.
derivedFrom:
component
code: Associated phenotype
value: Fragile X syndrome
component
code: Condition Inheritance
value: X-linked inheritance (recessive)
Entry 53 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalReprDiagImpHereditaryHemochromatoCouple
Resource Observation:
Generated Narrative: Observation PrenatalReprDiagImpHereditaryHemochromatoCouple
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
Profile: Diagnostic Implication
status: Final
category: Laboratory, Genetics
code: Diagnostic Implication
subject: Group: type = person; actual = true
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
note: Risk not calculated for HFE-associated hereditary hemochromatosis, ###What Is HFE-Associated Hereditary Hemochromatosis (HFE-HHC)?\n\nHFE-HHC is a common and treatable inherited disease in which the body absorbs and stores too much iron, potentially damaging organs such as the liver, heart, and pancreas. If the disease is diagnosed and treated before symptoms develop, individuals with HFE-HHC typically have a normal lifespan. If the disease is untreated, however, it can lead to fatal liver and heart failure. HFE-HHC is caused by mutations in the _HFE_ gene. \n\nThe most common mutations that cause HFE-HHC are C282Y and H63D. Up to 90% of individuals with HFE-HHC have two copies of the C282Y mutation, while up to 8% of patients have C282Y and H63D. Other mutations very rarely cause HFE-HHC. \n\nFor reasons not well understood, the majority of individuals with the genetic mutations that cause HFE-HHC do not develop symptoms of the disease at any point in their lives. For these individuals, simple blood tests can determine whether or not the body is storing too much iron. If iron levels are too high, beginning treatment early can leave a person virtually symptom-free for life.\n\nStudies have found that men are more likely to develop symptoms of iron overload than women, perhaps because women\'s menstrual cycles regularly lower their iron levels. In men who have not been treated for HFE-HHC, the first symptoms of the disease typically begin between the ages of 30 to 50; for untreated women, symptoms usually begin later, after menopause.\n\nEarly symptoms often include weakness, abdominal pain, joint pain, weight loss, loss of interest in sex, chest pain, and a gray or bronze coloring to the skin that gets worse over time. Liver disease (either fibrosis or the more serious cirrhosis) is a common problem associated with HFE-HHC. Cirrhosis can lead to fatal liver failure and/or an increased likelihood of developing cancer of the liver.\n\nThe heart can also be affected by HFE-HHC, seen as an irregular heartbeat and/or congestive heart failure. Other problems caused by HFE-HHC can include diabetes, arthritis, impotence (in men), early menopause (in women), thyroid problems, and adrenal-gland problems.\n\n###How Common Is HFE-HHC?\n\nHFE-HHC mutations are extremely common, particularly among Caucasians. Approximately 11% of Caucasians are carriers of the condition. In the general population, 1 in 200 to 1 in 300 has two copies of the C282Y genetic mutation. It is important to note that most individuals who have these genetic mutations do not develop the disease.\n\nThe disease is less common among Hispanics, African Americans, Asians, and Native Americans. Roughly 13% of Hispanics, 8.5% of Asians, and 6% of African Americans are carriers for the mild mutation, H63D. An additional 3% of Hispanics, 2.3% of African Americans are carriers of the potentially disease-causing C282Y mutation.\n\n## How Is HFE-HHC Treated?\n\nIdeally HFE-HHC is treated before the organs of the body are damaged. However, not everyone who has the mutations that cause HFE-HHC develops symptoms or requires treatment. A simple blood test (serum ferritin concentration and transferrin-iron saturation levels) can determine whether the body is absorbing too much iron. When iron reaches a certain threshold, treatment is recommended. If iron levels have not reached that threshold, no treatment is necessary. Blood tests must be repeated periodically to check these iron levels. Early treatment is important to prevent long-term effects of the disease.\n\nIf a person has a high level of iron, treatment involves removing a certain quantity of blood at regular intervals. This is known as phlebotomy. Typically phlebotomy is performed frequently, perhaps weekly or twice a week, until certain iron levels are reached. After that, it is performed less frequently, often two to four times a year, indefinitely. This treatment is simple, inexpensive, and safe. An alternative to phlebotomy is removing iron-rich red-blood cells from the blood (erythrocytapheresis) and returning other important components of the blood back to the body. This form of treatment may be helpful for patients who have side effects from phlebotomy or who have heart disease. \n\nIf a person is already suffering from symptoms of HFE-HHC, treatment can lessen or relieve some of the symptoms. However, treatment cannot reverse damage to organs such as the heart, liver, or pancreas. Cirrhosis of the liver is unlikely to improve with treatment, although treatment may slow its progression. If liver disease has reached severe levels, liver transplantation may be an option. Those who have any amount of liver damage are advised to avoid alcohol.\n\nAll individuals with symptoms of HFE-HHC are advised to avoid taking iron or vitamin C supplements. They are also advised not to eat uncooked shellfish, as they are highly susceptible to a particular kind of bacterial infection.\n\n## What Is the Prognosis for a Person with HFE-HHC?\n\nThe prognosis for a person with the genetic mutations that cause HFE-HHC is generally good, as the majority of individuals in that situation do not develop symptoms of the disease. Most will not have dangerously elevated levels of iron in their blood, and therefore will not have any iron-overload problems.\n\nFor those that do have high iron levels in their blood, beginning treatment before symptoms appear is a critical part of ensuring a long, healthy life. Nearly all symptoms of the disease can be prevented with early and ongoing treatment. If a person with HFE-HHC is treated before he or she develops cirrhosis of the liver, he or she can expect a normal lifespan. Among individuals who already have cirrhosis associated with HFE-HHC, 72% will survive at least five more years and 62% will survive at least 10 more years. Those who already have cirrhosis are at an increased risk for developing a type of liver cancer., HFE-HHC is an adult-onset condition that causes the body to absorb and store too much iron, potentially damaging organs such as the liver, heart, and pancreas. However, the majority of people with the condition do not develop symptoms of the disease at any point in their lives. For those with symptoms, effective treatment is available and can allow for a normal lifespan.
derivedFrom:
- Observation Genetic variant assessment
- Observation Genetic variant assessment
- Observation Genetic variant assessment
component
code: Associated phenotype
value: Hemochromatosis type 1
component
code: Condition Inheritance
value: Autosomal recessive inheritance
Entry 54 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalReprDiagImpFactorXiDeficiencyCouple
Resource Observation:
Generated Narrative: Observation PrenatalReprDiagImpFactorXiDeficiencyCouple
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
Profile: Diagnostic Implication
Genomic Risk Assessment: factor XI deficiency Reproductive Risk
status: Final
category: Laboratory, Genetics
code: Diagnostic Implication
subject: Group: type = person; actual = true
effective: 2024-06-26
performer: Practitioner PractitionerJane Smith
note: ## What is Factor XI Deficiency?\n\nFactor XI deficiency, also called hemophilia C, is an inherited disorder that can cause excessive bleeding. In many cases, the condition is relatively mild, and some individuals may have very few symptoms. The condition is caused by harmful genetic changes (variants) in the _F11_ gene. Individuals with the condition do not have enough factor XI protein. This protein helps platelets in the blood to clot, promoting blood vessel healing following injury. In individuals with factor XI deficiency, levels of factor XI are typically lower than normal. While bleeding problems tend to occur when factor XI levels are lower than 15% of the normal level, bleeding problems can occur when levels are as high as 70%. The severity of bleeding varies widely in individuals, even among members of the same family. \n\nIn individuals with factor IX deficiency, bleeding tends to be more severe after surgery, injury, or childbirth. Bleeding can be a problem after dental, tonsil, or urinary tract surgery. Individuals with factor XI deficiency may also be prone to bruising, nosebleeds, or having blood in their urine. Rarely, biological males with the disease will bleed heavily following circumcision. More than half of individuals with factor XI deficiency who menstruate have abnormally heavy and prolonged periods (menorrhagia). \n\nIt is uncommon for individuals with factor XI deficiency to bleed spontaneously for no obvious reason. However, there may be a delay in the onset of bleeding after an injury or surgery.\n\n\n### Additional considerations for carriers\n\nCarriers of factor XI deficiency are at elevated risk for bleeding problems. Studies have suggested that 20 to 50% of carriers of the disease show "excessive bleeding," although the definition of this phrase varies. Rarely, carriers have shown major bleeding problems.\n\n## How common is Factor XI Deficiency?\n\nThe incidence of factor XI deficiency in the general population is about 1 in 1,000,000. The disease is more common among families in northwest England, where 1 in 10,000 individuals have the disease. Is it also more common in Ashkenazi Jewish individuals, with an incidence of 1 in 450. \n\n## How is Factor XI Deficiency treated?\n\nThere is no cure for factor XI deficiency. The condition can be challenging to treat because bleeding can be unpredictable. In the United States, individuals may be treated with infusions of fresh frozen blood plasma. This blood plasma contains normal quantities of factor XI, thus temporarily enhancing the body\'s ability to clot. However, significant amounts of plasma may be required to achieve the desired clotting effect due to the low concentration of factor XI in plasma.\n\nIn Europe, several commercially available concentrated doses of factor XI can help improve clotting. In some cases, recombinant FVIIa protein is also used to improve clotting. In the case of bleeding in the mouth, nose, intestines, or uterus, several medications may be helpful, though they are not effective for major internal bleeding and can cause clotting throughout the body. Individuals who experience heavy menstrual bleeding may use hormonal birth control pills to help control the bleeding. \n\n## What is the prognosis for an individual with Factor XI Deficiency?\n\nFactor XI deficiency is not known to affect lifespan. In individuals who do not realize they have the disease, life-threatening bleeding is possible following surgery or injury., Factor XI deficiency is usually mild but can cause excessive bleeding after surgery, injury, or childbirth. People with factor XI deficiency may also be prone to bruising, nosebleeds, or blood in their urine. Treatment, when necessary, may involve blood transfusions or other medications. Factor XI deficiency is not known to affect a person\'s lifespan.
derivedFrom:
component
code: Associated phenotype
value: Thromboplastin antecedent deficiency
component
code: Condition Inheritance
value: Autosomal recessive inheritance
Entry 55 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalRecommendedFollowup1PatientMale
Resource Task:
Generated Narrative: Task PrenatalRecommendedFollowup1PatientMale
version: 1; Last updated: 2024-09-25 00:01:34+0000;
Information Source: #hrQE3dHjuHuJ5zkf
Profile: Followup Recommendation
status: Requested
intent: Proposal
code: Genetic counseling recommended
description: Carrier testing should be considered for the diseases specified above for the patient's partner.
Entry 56 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalRecommendedFollowup1PatientFemale
Resource Task:
Generated Narrative: Task PrenatalRecommendedFollowup1PatientFemale
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
Profile: Followup Recommendation
status: Requested
intent: Proposal
code: Genetic counseling recommended
description: Patients are recommended to discuss reproductive risks with their health care provider or a genetic counselor. Patients may also wish to discuss any positive results with blood relatives, as there is an increased chance that they are also carriers.
Entry 57 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalGenomicStudyCouple
Resource Procedure:
Generated Narrative: Procedure PrenatalGenomicStudyCouple
version: 2; Last updated: 2024-10-02 03:41:34+0000;
Information Source: #JVN7S7CW0og8nwN0
Profile: Genomic Study
status: Completed
category: Laboratory
subject: Group: type = person; actual = true
note: The <b>Organization Prenatal Carrier Screen</b> utilizes sequencing, maximizing coverage across all DNA regions tested, to help you learn about your chance to have a child with a genetic disease.
Entry 58 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalGenomicReportPatientMale
Resource DiagnosticReport:
Generated Narrative: DiagnosticReport PrenatalGenomicReportPatientMale
Genetic analysis report (Genetics)
Subject Higado Sobreviviente (official) Male, DoB: 1996-05-13 ( Patient ID: fec6172efdca41b4a13341e75cb62e0f (use: official, )) When For 2024-07-09 Performers Organization Generic Laboratories, Inc. Practitioner PractitionerJane Smith Report Details
Code Value Flags Note Genetic variant assessment Absent Final Genetic variant assessment Absent Final Genetic variant assessment Present Final Diagnostic Implication Final ##What is Familial Hyperinsulinism, ABCC8-related? Familial hyperinsulinism, ABCC8-related is an inherited condition that causes low blood sugar levels (hypoglycemia). In a healthy individual, the pancreas secretes a hormone called insulin after eating carbohydrates in response to rising blood sugar. In familial hyperinsulinism, insulin is secreted even without carbohydrate consumption. An excess of insulin released into the blood can cause blood sugars to drop to dangerously low levels. Familial hyperinsulinism, ABCC8-related is caused by harmful genetic changes (mutations) in the _ABCC8_ gene. Infants with familial hyperinsulinism tend to have very low blood sugar within the first few days of life. These newborns are typically larger at birth and may have difficulty feeding, poor muscle tone, and breathing problems. These infants often require immediate infusions of glucose to help raise blood sugar levels and prevent seizures. Prolonged hypoglycemia can also lead to permanent brain damage. In some individuals with familial hyperinsulinism, symptoms do not appear until later in childhood. The low blood sugar associated with the condition can also range from mild to severe depending on the individual, and it can vary even among members of the same family. There are two forms of familial hyperinsulism: the diffuse form and the focal form, each inherited in a different manner. ###Diffuse form In the diffuse form of the disease, all insulin-producing cells in the pancreas are affected. The diffuse form is typically inherited in an autosomal-recessive manner (i.e., two mutations are needed to cause the condition). In approximately 10 to 20% of cases, it is inherited an autosomal-dominant manner (i.e., only one mutation is needed to cause the condition), in which case carriers may be at risk for symptoms of hyperinsulism. ###Focal form In the focal form of the disease, only some of the insulin-producing cells of the pancreas are affected. For a child to have this form of the disease, two separate events must occur. The first is the inheritance of an _ABCC8_ mutation from their father. The second is that during fetal development a spontaneous mutation must arise in their other copy of the _ABCC8_ gene. This spontaneous mutation will only occur in some of the cells, which explains the focal nature. Male carriers have a 1 in 1,200 risk of having a child affected with focal hyperinsulism. ###Additional findings Specific mutations in the _ABCC8_ gene cause neonatal diabetes. In neonatal diabetes, not enough insulin is secreted, and blood sugar increases to dangerously high levels (hyperglycemia). Infants with neonatal diabetes tend to have high blood sugar levels between birth and six months of age. These newborns are typically smaller at birth and may have difficulty feeding, severe dehydration, glucose in the urine, and excessive urination. While some with neonatal diabetes need lifelong treatment to prevent high blood sugar, others may not experience symptoms after a few weeks or months. In rare cases, some infants may also have neurological symptoms, which can include developmental delay, muscle weakness, and seizures. As in familial hyperinsulinism, symptoms of neonatal diabetes can range from mild to severe, and severity can vary among family members. In most cases, neonatal diabetes caused by _ABCC8_ is inherited in an autosomal-dominant manner. Carriers may be at risk for diabetes. ##How common is Familial Hyperinsulinism, ABCC8-related? Several genes are known to cause familial hyperinsulinism, with _ABCC8_ mutations accounting for approximately 45% of documented cases. The overall incidence of hyperinsulinism is approximately 1 in 50,000 individuals. The incidence of familial hyperinsulinism, ABCC8-related may be more common among individuals of Ashkenazi Jewish descent. ##How is Familial Hyperinsulinism, ABCC8-related treated? Treatment for familial hyperinsulinism includes a special diet, medications, and surgical intervention. If an infant shows symptoms of familial hyperinsulinism at birth, glucose is often given through a vein (intravenously) to raise and stabilize the blood sugar level. Infants may also need frequent feedings with large amounts of carbohydrates, even overnight. A feeding tube may be helpful to ensure that an infant receives sufficient quantities of carbohydrates. There are also several types of medications that manage familial hyperinsulinism. Most of these medications focus on reducing the amount of insulin that is released into the body. Surgery may be needed to remove part of the pancreas if diet and medication cannot sufficiently manage a patient's blood sugar levels. After an extended period of successful treatment, many with familial hyperinsulinism find that their symptoms become less severe or even go into remission. However, individuals with familial hyperinsulinism may find their symptoms get worse if they have a viral infections. Such individuals should manage their symptoms carefully if they become ill, even if their symptoms have gone into remission. They should also avoid long periods of time without eating. ##What is the prognosis for an individual with Familial Hyperinsulinism, ABCC8-related? The long-term outlook for an individual with familial hyperinsulinism depends upon the severity of the symptoms and how well individuals respond to treatment. Permanent brain damage can occur from episodes of low blood sugar. Even with treatment, those with the disease can develop some degree of brain damage or have learning difficulties. They also may be at an elevated risk of diabetes. In the most serious cases, when the disease is not recognized and properly treated, it can be fatal. With early diagnosis and careful treatment, individuals with familial hyperinsulinism can have normal lifespans., Familial hyperinsulinism, ABCC8-related is an inherited condition in which the pancreas releases too much insulin, leading to dangerously low blood sugar levels (hypoglycemia). Seizures and permanent brain damage may occur as a result. In rare cases, mutations in this gene cause neonatal diabetes, where not enough insulin is produced, leading to high blood sugar (hyperglycemia) and, in rare cases, neurological symptoms. With early diagnosis and careful treatment using a combination of dietary modification, medications, and/or surgery, people with familial hyperinsulinism or neonatal diabetes can often have a normal lifespan. Diagnostic Implication Final ## What Is Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay? Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a progressive inherited condition that affects the body's ability to create a protein called sacsin, normally found in the brain, skin, and muscles. ARSACS is caused by mutations in the _SACS_ gene. The first symptom, unsteady gait, typically appears between 12 and 18 months of age, as toddlers begin to walk. Children also develop speech problems due to weak neck and facial muscles. The condition becomes increasingly worse over time, with muscle tension and spasms, difficulty coordinating movements, involuntary eye movements, and muscle wasting. Some people with ARSACS also lose sensation in their arms and legs as the nerves degenerate. Other symptoms include incontinence, deformities of the fingers and feet, and buildup of fatty tissue on the retina leading to vision problems. Occasionally, the disease also causes leaks in one of the valves that control blood flow through the heart. Most people with the condition are of normal intelligence and are able to live independently well into adulthood, although they eventually lose the ability to walk. ## How Common Is Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay? The majority of people with ARSACS have ancestry in the Charlevoix-Saguenay region of Quebec, Canada, where the condition affects approximately 1 in 1,500 to 2,000 people. While patients with ARSACS have been reported in other populations, the worldwide incidence is unknown. ## How Is Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Treated? There is no cure for ARSACS. Treatment focuses on easing the symptoms and postponing major functional disabilities. Physical therapy and anti-spasmodic oral medications can help control muscle spasms, prevent joint and tendon deformities, and preserve muscle function for some time. Low doses of medication can control incontinence. Occupational therapy and adaptive tools such as leg braces can support people with ARSACS in daily tasks such as driving. As the disease progresses, however, people with ARSACS typically lose the ability to perform these tasks. Children with the condition may benefit from speech therapy and other forms of support in school. ## What Is the Prognosis for a Person with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay? People with ARSACS become wheelchair-bound at an average age of 41 and commonly die in their fifties., Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) affects muscle movement. It causes abnormal tensing of the muscles, difficulty with coordination, muscle wasting, involuntary eye movements, and speech difficulties. The symptoms can begin as early as 12 to 18 months of age and become increasingly worse over time. Most people with the condition require a wheelchair in adulthood and die in their fifties. Diagnostic Implication Final ## What Is Alpha-1 Antitrypsin Deficiency? Alpha-1 Antitrypsin Deficiency (AATD), caused by mutations in the _SERPINA1_ gene, is an inherited condition that can cause lung and liver disease. The symptoms of AATD vary greatly from individual to individual, even among those in the same family. Knowing which mutations a child inherits can serve as a guide to how severe his or her symptoms might be. The primary mutation that causes symptoms is called the "Z allele." As the name indicates, AATD is caused by a deficiency in a protein called alpha-1 antitrypsin. This protein protects the body from neutrophil elastase, an enzyme which normally fights infection in a helpful way. Without sufficient levels of alpha-1 antitrypsin, neutrophil elastase can attack and harm healthy tissue in the lungs. Abnormally formed alpha-1 antitrypsin can also build up in the liver and cause damage. Ninety-five percent of AATD is caused by the presence of two Z alleles. Individuals who inherit two copies of the Z allele ("ZZ") are most likely to have the severe symptoms of the disease. Smokers with the disease are much more likely to develop symptoms than non-smokers. Secondhand smoke, particularly from one's parents, can also increase the chances of developing symptoms. Emphysema, a chronic disease in which air sacs in the lungs lose their normal ability to expand and contract, is the most common symptom of AATD. Emphysema causes a progressive difficulty in breathing and a hacking cough. It can severely limit physical activity. The first signs of emphysema, shortness of breath and wheezing, often appear between the ages of 40 and 50 in smokers with the disease. Non-smokers with AATD typically develop emphysema symptoms later, even after the age of 60. Liver disease is another possible symptom of AATD. About 2.5% of children with AATD will develop severe liver complications. Common symptoms of these early liver problems include a swollen abdomen, swollen feet or legs, abnormal liver enzyme activity, and a yellowing of the skin or whites of the eyes (jaundice). Overall, 15 to 19% of adults over the age of 50 with two Z alleles develop a build-up of scar tissue in the liver (cirrhosis). This symptom can develop at any age, with a greater risk of cirrhosis later in life. When liver disease associated with AATD begins later in life, destruction of the liver tissue can be rapid. Higher risk for a particular type of liver cancer has been reported among individuals with AATD, notably in men. Individuals with only one copy of the Z allele (called carriers) have a slightly elevated risk for lung or liver problems. One study placed this risk at 8%, versus 2 to 4% for the general population. Smokers who are carriers of the Z allele are more likely to develop lung problems such as emphysema, while non-smoking carriers rarely do. Individuals with AATD may rarely experience inflammation of the skin (panniculitis) or of the blood vessels (vasculitis). These symptoms are much less common than lung or liver complications, with panniculitis estimated to occur in 0.1% and vasculitis estimated to occur in 2% of patients with AATD. ## How Common Is Alpha-1 Antitrypsin Deficiency? In North America, AATD affects 1 in 5,000 to 7,000 individuals. In a study of 75,000 Europeans, researchers estimated that 1 in 4,700 were affected by AATD. The Z allele is most common among individuals of Northwestern European, French Canadian, Cajun, Ashkenazi Jewish, and Middle Eastern ancestry, where up to 1 in 32 individuals are carriers. AATD is rare in Asian and African populations, except in populations that are racially heterogeneous. For example, African-Americans in the United States have a higher rate of AATD than populations in Africa. Researchers believe that AATD is often diagnosed as chronic obstructive pulmonary disease (COPD), a relatively common disease, without the realization that AATD is the cause of the COPD. For this reason, the disease may be more common than prevalence numbers indicate. ## How Is Alpha-1 Antitrypsin Deficiency Treated? Individuals with AATD should not smoke. Smokers are more likely to develop symptoms of AATD. In smokers, symptoms tend to develop at an earlier age and progress at a faster rate. Individuals with the disease should also avoid exposure to secondhand smoke, pollution, mineral dust, gas, and chemical fumes. Regular exercise and good nutrition are beneficial for people with AATD. Carriers of the Z allele should also avoid smoking, as it can increase the risk for health problems related to the Z allele such as COPD or emphysema. Patients who have moderate lung damage are recommended to have infusions of purified human alpha-1 antitrypsin via intravenous injections. This treatment is considered most effective among individuals with moderate lung damage. This type of treatment is not recommended for patients with AATD who have very little or no lung damage. In individuals with severe liver or lung disease, transplantation of the failing organ may be an option. Liver transplants can "cure" the disease, because the donor liver will produce the alpha-1 antitrypsin protein. ## What Is the Prognosis for an Individual with Alpha-1 Antitrypsin Deficiency? The prognosis, or outcome, for patients with AATD depends on the type and severity of symptoms they have. In some patients the disease can shorten lifespan, while in others it allows for a normal lifespan. Roughly 2.5% of children with two copies of the Z allele develop severe liver disease and may need a liver transplant. Overall, smokers show much more severe and rapid lung damage beginning earlier in life than non-smokers, and those with one or more copies of the Z allele are more likely to develop symptoms. In non-smokers who develop lung complications after their 60th birthday, lifespan may be normal., Alpha-1 Antitrypsin Deficiency (AATD) causes lung and liver disease. The condition is primarily an adult-onset condition, and not all people with the condition will develop symptoms. In approximately 2.5% of cases, children with the condition will develop liver complications. People affected by AATD should avoid smoking. In some cases the disease shortens lifespan, while in many others it does not. Diagnostic Implication Final Diagnostic Implication Final Diagnostic Implication Final Subject's offspring are at increased risk for inheriting the following genetic diseases: , and alpha-1 antitrypsin deficiency
Coded Conclusions:
- Positive
Entry 59 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalGenomicReportPatientFemale
Resource DiagnosticReport:
Generated Narrative: DiagnosticReport PrenatalGenomicReportPatientFemale
Genetic analysis report (Genetics)
Subject Jenny M (official) Female, DoB: 1988-02-12 ( Patient ID: 7fb905f171204b94b8ee33d33cb624e6 (use: official, )) When For 2024-06-26 Performers Organization Generic Laboratories, Inc. Practitioner PractitionerJane Smith Report Details
Code Value Flags Note Genetic variant assessment Absent Final Genetic variant assessment Absent Final Genetic variant assessment Present Final Genetic variant assessment Present Final Genetic variant assessment Absent Final Genetic variant assessment Present Final Genetic variant assessment Present Final Diagnostic Implication Final Diagnostic Implication Final Diagnostic Implication Final Risk not calculated for HFE-associated hereditary hemochromatosis Diagnostic Implication Final Diagnostic Implication Final Risk not calculated for fragile X syndrome Subject's offspring are at increased risk for inheriting the following genetic diseases: HFE-associated hereditary hemochromatosis, and fragile X syndrome
Coded Conclusions:
- Positive
Entry 60 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalReproductivePreRiskFactorXiDeficiencyCouple
Resource RiskAssessment:
Generated Narrative: RiskAssessment PrenatalReproductivePreRiskFactorXiDeficiencyCouple
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
status: Final
subject: Group: type = person; actual = true
occurrence: 2024-06-26
basis:
- RiskAssessment: status = final; occurrence[x] = 2024-06-26
- Jenny M (official) Female, DoB: 1988-02-12 ( Patient ID: 7fb905f171204b94b8ee33d33cb624e6 (use: official, ))
- RiskAssessment: status = final; occurrence[x] = 2024-06-26
- Higado Sobreviviente (official) Male, DoB: 1996-05-13 ( Patient ID: fec6172efdca41b4a13341e75cb62e0f (use: official, ))
Predictions
Outcome Probability[x] Risk for inheriting a disease-causing mutation for factor XI deficiency before Prenatal test 0.000001 note: Residual risk is an estimate of each patient's post-test likelihood of being a carrier, while the reproductive risk represents an estimated likelihood that the patients' future children could inherit each disease. These risks are inherent to all carrier-screening tests, may vary by ethnicity, are predicated on a negative family history, and are present even given a negative test result. Inaccurate reporting of ethnicity may cause errors in risk calculation. In addition, average carrier rates are estimated using incidence or prevalence data from published scientific literature and/or reputable databases, where available, and are incorporated into residual risk calculations for each population/ethnicity. When population-specific data is not available for a condition, average worldwide incidence or prevalence is used. Further, incidence and prevalence data are only collected for the specified phenotypes (which include primarily the classic or severe forms of disease) and may not include alternate or milder disease manifestations associated with the gene. Actual incidence rates, prevalence rates, and carrier rates, and therefore actual residual risks, may be higher or lower than the estimates provided. Carrier rates, incidence/prevalence, and/or residual risks are not provided for some genes with biological or heritable properties that would make these estimates inaccurate. See the full clinical report for interpretation and details.
Entry 61 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalNegativeReprRiskCouple
Resource RiskAssessment:
Generated Narrative: RiskAssessment PrenatalNegativeReprRiskCouple
version: 1; Last updated: 2024-09-25 00:02:13+0000;
Information Source: #mzuK1EHcvMPipAda
status: Final
subject: Group: type = person; actual = true
occurrence: 2024-06-26
basis:
- Jenny M (official) Female, DoB: 1988-02-12 ( Patient ID: 7fb905f171204b94b8ee33d33cb624e6 (use: official, ))
- Higado Sobreviviente (official) Male, DoB: 1996-05-13 ( Patient ID: fec6172efdca41b4a13341e75cb62e0f (use: official, ))
prediction
outcome: Reproductive risk for inheriting a disease-causing mutation for glycogen storage disease type III after Prenatal test
probability: 1.0062908359834385E-9
prediction
outcome: Reproductive risk for inheriting a disease-causing mutation for primary hyperoxaluria type 1 after Prenatal test
probability: 8.381169698889434E-10
note: Negative results do not rule out the possibility of being a carrier. Residual risk is an estimate of each patient's post-test likelihood of being a carrier, while the reproductive risk represents an estimated likelihood that the patients' future children could inherit each disease. These risks are inherent to all carrier-screening tests, may vary by ethnicity, are predicated on a negative family history, and are present even given a negative test result. Inaccurate reporting of ethnicity may cause errors in risk calculation. In addition, average carrier rates are estimated using incidence or prevalence data from published scientific literature and/or reputable databases, where available, and are incorporated into residual risk calculations for each population/ethnicity. When population-specific data is not available for a condition, average worldwide incidence or prevalence is used. Further, incidence and prevalence data are only collected for the specified phenotypes (which include primarily the classic or severe forms of disease) and may not include alternate or milder disease manifestations associated with the gene. Actual incidence rates, prevalence rates, and carrier rates, and therefore actual residual risks, may be higher or lower than the estimates provided. Carrier rates, incidence/prevalence, and/or residual risks are not provided for some genes with biological or heritable properties that would make these estimates inaccurate. See the full clinical report for interpretation and details.
Entry 62 - fullUrl = http://hapi-fhir-server:8080/fhir/Bundle/PrenatalGenomicReportCouple
Resource DiagnosticReport:
Generated Narrative: DiagnosticReport PrenatalGenomicReportCouple
Genetic analysis report (Genetics)
Subject Not done yet When For 2024-06-26 Performers Organization Generic Laboratories, Inc. Practitioner PractitionerJane Smith Report Details
Code Value Flags Note Diagnostic Implication Final ## What is Factor XI Deficiency?\n\nFactor XI deficiency, also called hemophilia C, is an inherited disorder that can cause excessive bleeding. In many cases, the condition is relatively mild, and some individuals may have very few symptoms. The condition is caused by harmful genetic changes (variants) in the _F11_ gene. Individuals with the condition do not have enough factor XI protein. This protein helps platelets in the blood to clot, promoting blood vessel healing following injury. In individuals with factor XI deficiency, levels of factor XI are typically lower than normal. While bleeding problems tend to occur when factor XI levels are lower than 15% of the normal level, bleeding problems can occur when levels are as high as 70%. The severity of bleeding varies widely in individuals, even among members of the same family. \n\nIn individuals with factor IX deficiency, bleeding tends to be more severe after surgery, injury, or childbirth. Bleeding can be a problem after dental, tonsil, or urinary tract surgery. Individuals with factor XI deficiency may also be prone to bruising, nosebleeds, or having blood in their urine. Rarely, biological males with the disease will bleed heavily following circumcision. More than half of individuals with factor XI deficiency who menstruate have abnormally heavy and prolonged periods (menorrhagia). \n\nIt is uncommon for individuals with factor XI deficiency to bleed spontaneously for no obvious reason. However, there may be a delay in the onset of bleeding after an injury or surgery.\n\n\n### Additional considerations for carriers\n\nCarriers of factor XI deficiency are at elevated risk for bleeding problems. Studies have suggested that 20 to 50% of carriers of the disease show "excessive bleeding," although the definition of this phrase varies. Rarely, carriers have shown major bleeding problems.\n\n## How common is Factor XI Deficiency?\n\nThe incidence of factor XI deficiency in the general population is about 1 in 1,000,000. The disease is more common among families in northwest England, where 1 in 10,000 individuals have the disease. Is it also more common in Ashkenazi Jewish individuals, with an incidence of 1 in 450. \n\n## How is Factor XI Deficiency treated?\n\nThere is no cure for factor XI deficiency. The condition can be challenging to treat because bleeding can be unpredictable. In the United States, individuals may be treated with infusions of fresh frozen blood plasma. This blood plasma contains normal quantities of factor XI, thus temporarily enhancing the body\'s ability to clot. However, significant amounts of plasma may be required to achieve the desired clotting effect due to the low concentration of factor XI in plasma.\n\nIn Europe, several commercially available concentrated doses of factor XI can help improve clotting. In some cases, recombinant FVIIa protein is also used to improve clotting. In the case of bleeding in the mouth, nose, intestines, or uterus, several medications may be helpful, though they are not effective for major internal bleeding and can cause clotting throughout the body. Individuals who experience heavy menstrual bleeding may use hormonal birth control pills to help control the bleeding. \n\n## What is the prognosis for an individual with Factor XI Deficiency?\n\nFactor XI deficiency is not known to affect lifespan. In individuals who do not realize they have the disease, life-threatening bleeding is possible following surgery or injury., Factor XI deficiency is usually mild but can cause excessive bleeding after surgery, injury, or childbirth. People with factor XI deficiency may also be prone to bruising, nosebleeds, or blood in their urine. Treatment, when necessary, may involve blood transfusions or other medications. Factor XI deficiency is not known to affect a person\'s lifespan. Diagnostic Implication Final Risk not calculated for HFE-associated hereditary hemochromatosis, ###What Is HFE-Associated Hereditary Hemochromatosis (HFE-HHC)?\n\nHFE-HHC is a common and treatable inherited disease in which the body absorbs and stores too much iron, potentially damaging organs such as the liver, heart, and pancreas. If the disease is diagnosed and treated before symptoms develop, individuals with HFE-HHC typically have a normal lifespan. If the disease is untreated, however, it can lead to fatal liver and heart failure. HFE-HHC is caused by mutations in the _HFE_ gene. \n\nThe most common mutations that cause HFE-HHC are C282Y and H63D. Up to 90% of individuals with HFE-HHC have two copies of the C282Y mutation, while up to 8% of patients have C282Y and H63D. Other mutations very rarely cause HFE-HHC. \n\nFor reasons not well understood, the majority of individuals with the genetic mutations that cause HFE-HHC do not develop symptoms of the disease at any point in their lives. For these individuals, simple blood tests can determine whether or not the body is storing too much iron. If iron levels are too high, beginning treatment early can leave a person virtually symptom-free for life.\n\nStudies have found that men are more likely to develop symptoms of iron overload than women, perhaps because women\'s menstrual cycles regularly lower their iron levels. In men who have not been treated for HFE-HHC, the first symptoms of the disease typically begin between the ages of 30 to 50; for untreated women, symptoms usually begin later, after menopause.\n\nEarly symptoms often include weakness, abdominal pain, joint pain, weight loss, loss of interest in sex, chest pain, and a gray or bronze coloring to the skin that gets worse over time. Liver disease (either fibrosis or the more serious cirrhosis) is a common problem associated with HFE-HHC. Cirrhosis can lead to fatal liver failure and/or an increased likelihood of developing cancer of the liver.\n\nThe heart can also be affected by HFE-HHC, seen as an irregular heartbeat and/or congestive heart failure. Other problems caused by HFE-HHC can include diabetes, arthritis, impotence (in men), early menopause (in women), thyroid problems, and adrenal-gland problems.\n\n###How Common Is HFE-HHC?\n\nHFE-HHC mutations are extremely common, particularly among Caucasians. Approximately 11% of Caucasians are carriers of the condition. In the general population, 1 in 200 to 1 in 300 has two copies of the C282Y genetic mutation. It is important to note that most individuals who have these genetic mutations do not develop the disease.\n\nThe disease is less common among Hispanics, African Americans, Asians, and Native Americans. Roughly 13% of Hispanics, 8.5% of Asians, and 6% of African Americans are carriers for the mild mutation, H63D. An additional 3% of Hispanics, 2.3% of African Americans are carriers of the potentially disease-causing C282Y mutation.\n\n## How Is HFE-HHC Treated?\n\nIdeally HFE-HHC is treated before the organs of the body are damaged. However, not everyone who has the mutations that cause HFE-HHC develops symptoms or requires treatment. A simple blood test (serum ferritin concentration and transferrin-iron saturation levels) can determine whether the body is absorbing too much iron. When iron reaches a certain threshold, treatment is recommended. If iron levels have not reached that threshold, no treatment is necessary. Blood tests must be repeated periodically to check these iron levels. Early treatment is important to prevent long-term effects of the disease.\n\nIf a person has a high level of iron, treatment involves removing a certain quantity of blood at regular intervals. This is known as phlebotomy. Typically phlebotomy is performed frequently, perhaps weekly or twice a week, until certain iron levels are reached. After that, it is performed less frequently, often two to four times a year, indefinitely. This treatment is simple, inexpensive, and safe. An alternative to phlebotomy is removing iron-rich red-blood cells from the blood (erythrocytapheresis) and returning other important components of the blood back to the body. This form of treatment may be helpful for patients who have side effects from phlebotomy or who have heart disease. \n\nIf a person is already suffering from symptoms of HFE-HHC, treatment can lessen or relieve some of the symptoms. However, treatment cannot reverse damage to organs such as the heart, liver, or pancreas. Cirrhosis of the liver is unlikely to improve with treatment, although treatment may slow its progression. If liver disease has reached severe levels, liver transplantation may be an option. Those who have any amount of liver damage are advised to avoid alcohol.\n\nAll individuals with symptoms of HFE-HHC are advised to avoid taking iron or vitamin C supplements. They are also advised not to eat uncooked shellfish, as they are highly susceptible to a particular kind of bacterial infection.\n\n## What Is the Prognosis for a Person with HFE-HHC?\n\nThe prognosis for a person with the genetic mutations that cause HFE-HHC is generally good, as the majority of individuals in that situation do not develop symptoms of the disease. Most will not have dangerously elevated levels of iron in their blood, and therefore will not have any iron-overload problems.\n\nFor those that do have high iron levels in their blood, beginning treatment before symptoms appear is a critical part of ensuring a long, healthy life. Nearly all symptoms of the disease can be prevented with early and ongoing treatment. If a person with HFE-HHC is treated before he or she develops cirrhosis of the liver, he or she can expect a normal lifespan. Among individuals who already have cirrhosis associated with HFE-HHC, 72% will survive at least five more years and 62% will survive at least 10 more years. Those who already have cirrhosis are at an increased risk for developing a type of liver cancer., HFE-HHC is an adult-onset condition that causes the body to absorb and store too much iron, potentially damaging organs such as the liver, heart, and pancreas. However, the majority of people with the condition do not develop symptoms of the disease at any point in their lives. For those with symptoms, effective treatment is available and can allow for a normal lifespan. Diagnostic Implication Final Risk not calculated for fragile X syndrome, ## What is fragile X syndrome?\n\nFragile X syndrome (FXS), caused by extra CGG repeats in the _FMR1_ gene, is a condition that causes a variety of developmental and behavioral problems. Fragile X syndrome is an X-linked disease. This means that the _FMR1_ gene is on the X-chromosome. Males have one copy of the X-chromosome, while females have two copies. Because males only have one copy, a harmful change in the _FMR1_ gene typically causes more severe symptoms in males. Carrier females may be asymptomatic or may exhibit symptoms. Fragile X syndrome is the most common inherited form of intellectual disability. It is the leading single-gene cause of autism spectrum disorders.\n\nFragile X syndrome typically causes moderate intellectual disability (defined as an IQ below 70) in males. However, the severity of intellectual impairment varies from individual to individual. A few male patients do not have an intellectual disability. About one-third of females with fragile X syndrome have a mild intellectual disability.\n\nAs infants, children with fragile X syndrome may have weak muscles (hypotonia), stomach acid that comes up into the mouth (gastric reflux), and frequent ear infections. Their motor, mental, and speech milestones tend to be delayed. Children with fragile X syndrome often have behavioral problems such as anxiety, hyperactivity, hand flapping, biting, and temper tantrums. About one-third of males with fragile X syndrome have autism or autism-like behavior. Symptomatic females usually have milder symptoms than males. Behavioral problems in females may appear as depression, shyness, and avoidance of social situations. Some individuals with the condition have attention deficit disorder and cannot sustain focused attention on a specific task. Individuals with fragile X syndrome, particularly males, may lack impulse control, make poor eye contact, and be easily distracted.\n\nMales with fragile X syndrome often share characteristic physical features such as a long, narrow face with a prominent jaw and forehead, a large head, flexible joints, and large ears. These features become more apparent with age. These characteristics tend to be milder or absent in females with the condition. After puberty, males with fragile X syndrome typically have enlarged testicles.\n\nRoughly 15% of males and 5% of females with fragile X syndrome will experience seizures. While some experience heart murmurs (known as mitral valve prolapse), it is usually harmless and may not require treatment.\n\n#### Effects of a premutation\n\nMales and females with a premutation do not have fragile X syndrome but may experience specific physical symptoms. The main risks for carriers of a premutation are fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated premature ovarian insufficiency (FXPOI), and fragile X-associated neuropsychiatric disorders (FXAND).\n\n_Fragile X-associated tremor/ataxia syndrome (FXTAS)_: FXTAS causes an inability to coordinate muscle movements that worsens over time (ataxia), tremors, memory loss, impaired ability to think or remember information (dementia), a loss of feeling and weakness in the lower legs, and some mental and behavioral changes. Approximately 40% of males over 50 years of age with a fragile X premutation will develop FXTAS. Between 8-16% of females with a fragile X premutation are affected by FXTAS. Typically, symptoms of FXTAS begin around age 60 with a tremor, followed several years later by the inability to coordinate muscle movements. \n\n_Fragile X-associated primary ovarian insufficiency (FXPOI)_: About 20% of females with a premutation experience FXPOI. This condition causes their menstrual periods to stop before age 40. Females with FXPOI will often have difficulty getting pregnant, and many will not be able to have children. Females with a full mutation are not at increased risk for POI.\n\n_Fragile X-associated neuropsychiatric disorders (FXAND)_: There is an increased rate of neuropsychiatric conditions among premutation carriers. These include depression, generalized and social anxiety, and attention deficit disorder. \n\n## How is fragile X syndrome inherited?\n\n**Fragile X syndrome is inherited in an X-linked manner. The inheritance is much more complex than many other genetic diseases. A healthcare professional, such as a genetic counselor, can help answer questions about this condition and the risk of transmitting it to the next generation.**\n\nFragile X syndrome is caused by changes in the _FMR1_ gene, which is located on the X-chromosome. This gene contains a segment of DNA called the "CGG repeat." The CGG repeat in the _FMR1_ gene is a pattern of DNA that repeats itself many times. By counting the number of CGG repeats in the parents, one can determine the likelihood that a child will have fragile X syndrome.\n\nThe CGG repeat in the _FMR1_ gene falls into one of the following four categories:\n\n| Category | _FMR1_ CGG repeat size |\n| ------------- | ------------- |\n| Normal | 5 to 44 repeats |\n| Intermediate | 45 to 54 repeats |\n| Premutation | 55 to 200 repeats |\n| Full mutation | More than 200 repeats |\n\n#### Normal\n\nAn _FMR1_ gene with 5 to 44 CGG repeats is considered normal. Individuals with this number of _FMR1_ CGG repeats do not have an increased chance of having a child with fragile X syndrome. CGG repeats in this range are considered stable because they usually pass from parent to child with the same number of repeats. For example, if a parent\'s gene has 30 CGG repeats, their child will likely have a gene with 30 CGG repeats.\n\n#### Intermediate\n\nAn individual with 45 to 54 repeats is not expected to have an increased chance of passing on fragile X syndrome to their child, but the number of repeats transmitted to the next generation may increase slightly. \n\n#### Premutation\n\nIndividuals with 55 to 200 CGG repeats have a premutation. They do not have symptoms of fragile X syndrome. However, they are at increased risk for FXTAS, FXPOI, and FXAND. Depending on which parent has the premutation, future children may be at risk of having fragile X syndrome.\n\n#### Full mutation\n\nIndividuals with more than 200 CGG repeats have a non-functioning _FMR1_ gene (also known as a full mutation). Males with more than 200 CGG repeats usually have symptoms of fragile X syndrome. Females with more than 200 CGG repeats may also have symptoms of fragile X syndrome and are at risk of passing the condition on to their children.\n\n### What does it mean to have an intermediate result? \n\nAn FMR1 gene that has 45-54 repeats is considered intermediate. The number of CGG repeats is higher than normal but not large enough to be considered a premutation. Sometimes CGG repeats in the intermediate range are referred to as "gray zone" results. Individuals with an intermediate repeat do not have an increased chance of having a child with fragile X syndrome. Most intermediate genes are stable and do not significantly expand when passed on. However, repeats in the intermediate range may slightly expand when passed on to the next generation in some cases. For example, a parent with 45 CGG repeats could have a child with 50 CGG repeats. If the number of repeats continues to increase, future generations (i.e., grandchildren or great-grandchildren) may have a chance of inheriting fragile X. Expansion to a full mutation in one generation from a maternal gene with fewer than 56 repeats has not been reported. Children of individuals with an intermediate result may consider fragile X testing to determine their CGG repeat sizes once they are adults for reproductive planning purposes.\n\nApproximately 3% of patients undergoing fragile X carrier screening will have an intermediate result. Individuals with an intermediate repeat do NOT have an increased chance of having the physical symptoms affecting premutation carriers such as FXTAS, FXPOI, and FXAND.\n\n### What does it mean to have a premutation or full mutation? What is the chance that a child will have fragile X syndrome?\n\nFor females with a full mutation, 50% of their children will also inherit the full mutation and be at risk for symptoms of fragile X syndrome. Males who have full mutations typically do not reproduce.\n\nPremutations are more complicated. When the parent has a premutation, the risk of a child developing fragile X syndrome depends on the answers to the following questions:\n\n1. Which parent has the premutation?\n2. Will the child inherit the premutation?\n3. Will the premutation expand to a full mutation?\n\n#### Which parent has the premutation?\n\nFemales that are premutation carriers are at risk of having children with fragile X syndrome. Premutations inherited from a female can be unstable and may expand to become full mutations in the child. This risk can be modified by AGG interruptions, which reduce the likelihood of expansion.\n\nPremutations passed from a male parent may change the CGG repeat number. However, premutations do not expand to full mutations when passed from a male parent. Therefore, males with premutations are not at risk of having children with fragile X syndrome.\n\n#### Will the child inherit the premutation?\n\nPremutations are not thought to expand to full mutations when passed from a male parent to a female child. However, there can be a change in the number of CGG repeats. These female children are generally not at risk of having fragile X syndrome, but their future children (the grandchildren of the original premutation carrier) will be at risk. Male parents pass a Y chromosome to their male children instead of an X, so fragile X premutations are not passed from a male parent to a male child.\n\nIf a female parent has a premutation on one of their X chromosomes, there is a 50% chance in each pregnancy that their child will inherit the X chromosome with the premutation and a 50% chance that they will not. Only children who inherit the X chromosome with the premutation would be at risk for fragile X syndrome if it expands.\n\n\n#### Will the premutation expand to a full mutation?\n\nIf a female parent has a gene with a premutation that gets passed to their children, there are two possibilities:\n\n1. The premutation does not expand beyond 200 repeats and remains a premutation in the child. That child has no symptoms of fragile X syndrome but may experience FXAND and FXTAS or FXPOI as adults.\n2. The premutation expands into a full mutation, causing fragile X syndrome in males and risk for fragile X syndrome in females.\n\nRarely, a CGG repeat may contract (or reduce in number). Therefore, there is a small possibility that a premutation could be passed on as an intermediate or normal repeat to the child.\n\nThe greater the number of CGG repeats a female has, the more unstable the gene is and the more likely it will expand to a full mutation in their children. The smallest premutation observed to expand to a full mutation in a single generation is 56 repeats.\n\n| Number of Maternal Premutation CGG Repeats | Percentage (Total Females) Which Expanded to Full Mutations |\n| ------------- | ------------- |\n| 55-59 | <1% (1/197) |\n| 60-64 | 2% (2/115) |\n| 65-69 | 7% (6/85) |\n| 70-74 | 21% (18/84) |\n| 75-79 | 47% (47/99) |\n| 80-84 | 62% (60/96) |\n| 85-90 | 81% (34/42) |\n\nMore than 94% of genes with >90 CGGs expand to a full mutation.\n\nAdapted from [Nolin et al. (2015)](https://www.ncbi.nlm.nih.gov/pubmed/25210937) and [Nolin et al. (2011)](http://www.ncbi.nlm.nih.gov/pubmed/21717484). These percentages typically exclude families with a family history of fragile X syndrome.\n\n## How Common Is Fragile X Syndrome?\n\nThe incidence of fragile X syndrome is estimated to be 1 in 4,000 males and 1 in 8,000 females.\n\n## How Is Fragile X Syndrome Treated?\n\nThere is no cure for fragile X syndrome, but children with the condition can be treated and supported in many ways depending on their particular symptoms and the severity of those symptoms. They may benefit from educational support like early developmental intervention, special education classes in school, speech therapy, occupational therapy, and behavioral therapies. A physician may prescribe medication for behavioral issues such as aggression, anxiety, or hyperactivity.\n\nA small number of these children experience seizures which can be controlled with medication. While some have a heart murmur, it is usually harmless and may not require treatment.\n\n## What Is the Prognosis for an Individual with Fragile X Syndrome?\n\nWhile many of the children with fragile X syndrome have learning and behavioral problems, they generally do not have major medical problems and can live a normal lifespan., Fragile X syndrome causes serious intellectual impairment and behavioral problems. It is the most common form of inherited intellectual disability. Due to the X-linked pattern of inheritance, fragile X syndrome is more common and more severe in males than females. Subjects' offspring are at increased risk for inheriting the following genetic diseases: HFE-associated hereditary hemochromatosis, factor XI deficiency, and fragile X syndrome
Coded Conclusions:
- Positive
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Resource RelatedPerson:
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org/fhir/us/core/StructureDefinition/us-core-race
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name: Higado Sobreviviente (Official)
gender: Male
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address: US (home)
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Resource RelatedPerson:
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Information Source: #mzuK1EHcvMPipAda
org/fhir/us/core/StructureDefinition/us-core-race
- ombCategory: CDC Race and Ethnicity 2106-3: White
- detailed: CDC Race and Ethnicity 2108-9: European
- text: Northern European
identifier: Patient ID/7fb905f171204b94b8ee33d33cb624e6 (use: official, )
active: true
relationship: domestic partner
name: Jenny M (Official)
gender: Female
birthDate: 1988-02-12
address: US (home)