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: 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
performed: 2024-06-26
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