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2013年度國際代檢協力方案補助成果 |
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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 |
|
共服務7人次，補助6案，本會補助82,644元 |
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