MII Implementierungsleitfaden Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 - Germany

This page is part of the MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht (v2027.0.0-ballot.1: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

Beispiel Procedure: TSO500 Library Preparation


German


Genomic Study Analysis Specimen: Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_tso500_ffpe_01; status = available; type = Formalin-fixed paraffin-embedded tissue specimen; receivedTime = 2024-05-16 09:20:00+0200

Genomic Study Analysis Device

Genomic Study Analysis Method Type: DNA hybridization

Genomic Study Analysis Regions

  • description: TSO500 v2 Panel: 523 Gene für SNV/Indel, 59 für CNV, 23 für DNA-Rearrangements, 55 Gene für RNA-Fusionen/Splice-Varianten; integrierte Biomarker TMB/MSI/HRD. Unten repräsentatives, NSCLC-relevantes Subset; vollständige Genliste siehe DeviceDefinition mii-exa-molgen-devicedef-tso500
  • studied: EGFR
  • studied: KRAS
  • studied: BRAF
  • studied: NRAS
  • studied: ALK
  • studied: ROS1
  • studied: MET
  • studied: RET
  • studied: TP53
  • studied: PIK3CA
  • studied: ERBB2
  • studied: FGFR2
  • studied: FGFR3

status: Completed

category: Laboratory

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Krankenaktennummer (use: usual, ))