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

Example Procedure: PrenatalGenomicStudyAnalysisPrimaryHyperoxaluriaPatientMale

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

subject: Higado Sobreviviente (official) Male, DoB: 1996-05-13 ( Patient ID: fec6172efdca41b4a13341e75cb62e0f (use: official, ))

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