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 Observation: Variante BRCA1

German

Profiles: MII PR MolGen Variante version: 2027.0.0-ballot.1, Variant version: 3.0.0

basedOn: ServiceRequest Molecular genetic test (procedure)

status: Final

category: Laboratory, Genetik

code: Genetic variant assessment

subject: Elisa Schmidt-Huber (official) Female, DoB: 1973-03-12 ( Krankenaktennummer (use: usual, ))

effective: 2022-11-01

value: Present

method: Sequencing

specimen: Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_03; status = available; type = Tissue specimen from breast (specimen); receivedTime = 2022-11-01

device: Device: status = active; manufacturer = Illumina

component

code: Gene studied [ID]

value: BRCA1

component

code: Cytogenetic (chromosome) location

value: 17q21.31

component

code: DNA change (c.HGVS)

value: NM_007294.3:c.5266dupC

component

code: Transcript reference sequence [ID]

value: NM_007294.3

component

code: DNA change type

value: Duplication

component

code: Allelic read depth

value: 50 Abdeckung der Fragmente (Details: UCUM code1 = '1')

component

code: Discrete genetic variant

value: rs80357906

component

code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method

value: Chromosome 17

component

code: Amino acid change (pHGVS)

value: p.Gln1756Profs

component

code: Laboratory device Detection limit

value: >95 % (Details: UCUM code% = '%')