Generated Narrative: Observation obs-diagnostic-min

identifier: 101202401021

status: Final

category: Laboratory

code: Genetic variant assessment

subject: 王大明 Male, DoB: 2001-01-01 ( Medical record number (use: official, ))

effective: 2024-01-01

performer: Organization: identifier = https://dep.mohw.gov.tw#2023LDTB0002

value: Present

method: Sequencing

specimen: Specimen: identifier = 123-4567; type = Bld; receivedTime = 2024-05-06 09:00:00+0000

device: Device: modelNumber = HiSeq 4000 System

derivedFrom: DocumentReference: status = current

component

code: BRCA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal

component

code: DNA change (c.HGVS)

value: NM_005228.4:c.2573T>G

component

code: Gene studied [ID]

value: EGFR

component

code: Genomic DNA change (gHGVS)

value: NC_000007.13:g.55259515T>G

component

code: Genomic allele start-end

value: 96521657-96521657