identifier: http://example.org/identifier/case-number/123456

status: Final

code: Genetic analysis report

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

effective: 2024-01-01

specimen: Specimen: identifier = 123-4567; type = Bld

device: Device: modelNumber = HiSeq 4000 System

derivedFrom: DocumentReference: status = current

component

code: 完整基因清單

value: HGNC:583,HGNC:3236,HGNC:7127,HGNC:8975,HGNC:8979,HGNC:7029,HGNC:20709,HGNC:1100,HGNC:3765,HGNC:11998,HGNC:1097,HGNC:427,HGNC:9588,HGNC:3430,HGNC:1316

component

code: 檢測目標基因個數

value: 15

component

code: 建庫試劑組廠牌

value: Ion Xpress™ Plus Fragment Library Kit

component

code: 定序總讀數

value: 2654265

component

code: 平均測序深度

value: 456 x

component

code: 人類參考基因組版本

value: GRCh38

component

code: 對準成功率

value: 96.4 % (Details: UCUM code% = '%')

component

code: 腫瘤基因檢測數據判讀

value: present

component

code: 基因臨床判讀結果

value: 文字描述臨床判讀結果