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
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
performed: 2024-06-26
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