Additional Resources Included in Document

Entry 2 - fullUrl = http://example.org/DiagnosticReport/diag-min

Resource DiagnosticReport:

Profile: 基因定序檢測報告-DiagnosticReport TWNGS

XX 癌症基因檢測

Subject	王大明 Male, DoB: 2001-01-01 ( Medical record number (use: official, ))
When For	2024-05-07
Performer	Organization XX檢驗實驗室

Report Details

Code	Value	Flags	Note	When For
Genetic analysis report		Final		2024-01-01
Genetic variant assessment		Final		2024-01-01
Fusion	EML4::ALK	Final		2024-01-01
Genomic structural variant copy number	8 copy number	Final, Amplification		2024-01-01
Biomarker		Final	HRD (Homologous Recombination Deficiency)-high HLA LOH (Human Leukocyte Antigen Loss of Heterozygosity) -HLA-A loss	2024-01-01
Other Types of Variant	complex rearrangement	Final		2024-01-01

Entry 3 - fullUrl = http://example.org/Condition/con-min

Resource Condition:

Profile: 基因定序檢測報告之疾病資訊-Condition TWNGS

clinicalStatus: Active

category: Encounter Diagnosis

code: 慢性右心臟衰竭

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

recordedDate: 2024-01-01

note:

Adenocarcinoma, descending colon, cT3N2M1a, cStage IVA, KRAS G12V, with multiple liver metastases, status post FOLFIRI。附件附上病人診斷之相關資料，惠請委員核准Avastin之初申請，以利後續合併FOLFIRI之治療，謝謝。

Entry 4 - fullUrl = http://example.org/Patient/pat-min

Resource Patient:

Profile: 病人資訊-Patient TWNGS

王大明 Male, DoB: 2001-01-01 ( National Person Identifier where the xxx is the ISO table 3166 3-character (alphabetic) country code (use: official, ))

---

Other Ids:

Medical record number/123456 (use: official, )

Entry 5 - fullUrl = http://example.org/Organization/org-hosp-min

Resource Organization:

Profile: 醫事機構-Organization TWNGS

identifier: Provider number/1145010010 (use: official, )

type: Healthcare Provider

Entry 6 - fullUrl = http://example.org/Organization/org-gene-min

Resource Organization:

Profile: 基因檢測機構-Organization Gene TWNGS

identifier: https://dep.mohw.gov.tw/2023LDTB0002

name: XX檢驗實驗室

Entry 7 - fullUrl = http://example.org/Specimen/spe-bld-min

Resource Specimen:

Profile: 基因檢測檢體-Specimen TWNGS

identifier: 123-4567

type: Bld

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

Collections

-	Collected[x]	Quantity	BodySite
*	2025-06-07	40 %	No display for Specimen.collection.bodySite (concept: )

Entry 8 - fullUrl = http://example.org/Device/dev-min

Resource Device:

Profile: 基因定序檢測裝置-Device TWNGS

modelNumber: HiSeq 4000 System

Entry 9 - fullUrl = http://example.org/DocumentReference/doc-gene-min

Resource DocumentReference:

Profile: 基因報告-DocumentReference TWNGS

status: Current

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

content

Attachments

-	ContentType	Url	Title
*	application/pdf	file://GenReport01.pdf	BRCA 基因檢測

Entry 10 - fullUrl = http://example.org/Observation/obs-geneinfo-min

Resource Observation:

Profile: 基因資訊-Observation GeneInfo TWNGS

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

Entry 11 - fullUrl = http://example.org/Observation/obs-variant-min

Resource Observation:

Profile: 短序列DNA變異資訊-Observation Variant TWNGS

status: Final

code: Genetic variant assessment

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: 轉錄本資料庫名稱

value: RefSeq

component

code: 轉錄本參考資料庫版本

value: 115

component

code: Transcript reference sequence [ID]

value: NM_000038.6

component

code: DNA change (c.HGVS)

value: c.4393_4394del

component

code: Gene studied [ID]

value: APC

component

code: Amino acid change (pHGVS)

value: p.Ser1465fs

component

code: Sample variant allelic frequency [NFr]

value: 48.9 % (Details: UCUM code% = '%')

component

code: DNA change type

value: Deletion

component

code: Genomic reference sequence [ID]

value: NC_000005.10

component

code: Genomic DNA change (gHGVS)

value: g.112839979_112839980del

component

code: 蛋白質參考序列編號

value: NP_000029.2

component

code: 胺基酸變異類型

value: Frameshift

component

code: Allelic read depth

value: 440

component

code: 變異區測序總讀數

value: 900

Entry 12 - fullUrl = http://example.org/Observation/obs-fusion-min

Resource Observation:

Profile: 基因融合資訊-Observation Fusion TWNGS

status: Final

code: Fusion

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

effective: 2024-01-01

value: EML4::ALK

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

device: Device: modelNumber = HiSeq 4000 System

derivedFrom: DocumentReference: status = current

Components

-	Code	Value[x]
*	Sample variant allelic frequency [NFr]	16.7 % (Details: UCUM code% = '%')

Entry 13 - fullUrl = http://example.org/Observation/obs-cnv-min

Resource Observation:

Profile: 拷貝數變異資訊-Observation CNV TWNGS

status: Final

code: Genomic structural variant copy number

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

effective: 2024-01-01

value: 8 copy number

interpretation: Amplification

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

device: Device: modelNumber = HiSeq 4000 System

derivedFrom: DocumentReference: status = current

Components

-	Code	Value[x]
*	Gene studied [ID]	HER2

Entry 14 - fullUrl = http://example.org/Observation/obs-biomarker-min

Resource Observation:

Profile: 基因生物標記資訊-Observation Biomarker TWNGS

status: Final

code: Biomarker

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

effective: 2024-01-01

note:

HRD (Homologous Recombination Deficiency)-high HLA LOH (Human Leukocyte Antigen Loss of Heterozygosity) -HLA-A loss

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

device: Device: modelNumber = HiSeq 4000 System

derivedFrom: DocumentReference: status = current

component

code: MSI Score

value: 30 % (Details: UCUM code% = '%')

component

code: Microsatellite instability [Interpretation] in Cancer specimen Qualitative

value: MSI-H

component

code: Mutations/Megabase [# Ratio] in Tumor

value: 10 Muts/Mb

component

code: Tumor mutation burden [Interpretation]

value: Low

Entry 15 - fullUrl = http://example.org/Observation/obs-othvar-min

Resource Observation:

Profile: 其他變異影響之基因-Observation Other Variant TWNGS

status: Final

code: Other Types of Variant

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

effective: 2024-01-01

value: complex rearrangement

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

device: Device: modelNumber = HiSeq 4000 System

derivedFrom: DocumentReference: status = current

Components

-	Code	Value[x]
*	Gene studied [ID]	MYC

Entry 16 - fullUrl = http://example.org/ServiceRequest/serReq-min

Resource ServiceRequest:

Profile: 基因定序檢測申請項目-ServiceRequest TWNGS

status: Active

intent: Plan

code: No display for ServiceRequest.code (concept: 實體腫瘤次世代基因定序－BRCA1/2基因檢測)

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