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: PrenatalGenomicStudyAnalysisAlpha1ADPatientMale

Generated Narrative: Procedure PrenatalGenomicStudyAnalysisAlpha1ADPatientMale

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_000295:2-5

Genomic Study Analysis Regions

  • description: Genes studied
  • studied: SERPINA1

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: 2024-07-09

note: alpha-1 antitrypsin deficiency - SERPINA1. 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 alpha-1 antitrypsin deficiency, Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jul 9, 2024, Report content approved by Krista Moyer, MGC on Jul 9, 2024