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 PrenatalGenomicStudyAnalysisAutosomalRecessiveSAoCSPatientMale
version: 1; Last updated: 2024-10-02 03:41:29+0000;
Information Source: #DEqMJP5Koyub2naR
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_014363:2-10
Genomic Study Analysis Regions
- description: Genes studied
- studied: SACS
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: 2024-07-09
note: autosomal recessive spastic ataxia of Charlevoix-Saguenay - SACS. 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 autosomal recessive spastic ataxia of Charlevoix-Saguenay, Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jul 9, 2024, Report content approved by Krista Moyer, MGC on Jul 9, 2024