2013年度國際代檢協力方案補助成果

編號

申請日期

醫院

疑似疾病診斷

檢驗機構/項目/國家

檢驗結果

補助金額

101ID004

101.11.23

台北馬偕

Freeman-Sheldon Syndrome

Myh3 bi- directional sanger sequencing (2) if (1) is negative, perfmoe myh3 deletion/duplication testing via array comparative genomic hybridization / PreventionGenetics/ 美國

postive

NT$12,364

101ID005

101.11.29

台大醫院

Diamond Blackfan Anemia

PRS19 sequencing and deletion/duplication test / GeneDx/ 美國

Negative

NT$22,330

101ID006

101.11.30

林口長庚

Limb girdle muscular dystrophy 2B (dysferlinopathy)

1.Limb-Girdle Muscular Dystrophy Type 2B: DYSF Full Gene Sequencing

2. Limb-Girdle Muscular Dystrophy Type 2B: DYSF Gene Deletion/Duplication/Emory University School of Medicine/ 美國

postive

NT$12,000

102ID001

102.01.25

台北馬偕

Cardiofaciocutaneous Syndrome(CFC)

Noonan spectrum Panel/ The Partners HealthCare Center for Personalized Genetic Medicine(PCPGM)/ 美國

postive

NT$8,000

102ID002

102.02.18

高雄長庚

Diamond Blackfan Anemia

Ambry Genetics / DBA Reflex Option All Genes, Steps 1 - 3 Price: $750 Step 1, additional $1950 for Step 2, and if proceed to Step 3 the total cost of testing will be $3,900/ 美國

Negative

NT$18,459

102ID003

102.03.06

台大醫院

Costello syndrome

HRAS gene sequencing/

PreventionGenetics/ 美國

postive

NT$9,491

102ID004

102.05.31

台大醫院

Noonan syndrome

Noonan Spectrum Panel/ The Partners HealthCare Center for Personalized Genetic Medicine (PCPGM)/ 美國

Negative

NT$0

補助7個個案,補助金額共計NT$82,644