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: PrenatalGenomicStudyAnalysisFragileXSyndromePatientFemale

Generated Narrative: Procedure PrenatalGenomicStudyAnalysisFragileXSyndromePatientFemale

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: Genes studied
  • studied: FMR1

Genomic Study Analysis Method Type: FMR1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

status: Completed

subject: Jenny M (official) Female, DoB: 1988-02-12 ( Patient ID: 7fb905f171204b94b8ee33d33cb624e6 (use: official, ))

performed: 2024-06-26

note: fragile X syndrome - FMR1. X-linked inheritance (recessive). triplet repeat detection. Detection rate: Northern European >99%, No disease-causing mutations were detected in any other gene tested for fragile X syndrome, Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024, Report content approved by Krista Moyer, MGC on Jun 26, 2024