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2014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 |
|
103ID001 |
01.15 |
花蓮慈濟 |
Protein S Deficiency |
Centogene
AG - the Rare Disease Company/ PROS1 gene sequencing /德國 |
postive |
NT$24,236 |
|
103ID002 |
02.12 |
林口長庚 |
Rubinstein Taybi |
Baylor Medical Genetics
Laboratories/ CREBBP Comprehensive- sequencing
& deletion/duplication analysis/ 美國 |
Negative |
NT$16,397 |
|
103ID003 |
05.01 |
台大醫院 |
Coffin-Sirir
syndrome |
Centogene
AG/ Coffin-Siris syndrome panel, that includes
genes: ARID1A, ARID1B, SMARCA4, SMARCB1, and SMARCE1/ 德國 |
Negative |
NT$81,952 |
|
103ID004 |
06 |
台大醫院 |
Cardiofaciocutaneous
Syndrome(CFC) |
Noonan spectrum Panel/ The Partners
HealthCare Center for Personalized Genetic Medicine(PCPGM)/ 美國 |
postive |
NT$5,000 |
|
103ID005 |
09.16 |
彰化基督教醫院 |
aHUS |
Centogene
AG/ (分2階段進行，若第1階段無異常則進行第2階段) Step1:
CFH gene sequencing; Step 2: aHUS
gene sequencing panel includes ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2,
CFHR3, CFHR4, CFHR5, CFI, DGKE, THBD genes (共13個基因) /德國 |
Negative |
|
|
103ID006 |
09.11 |
台大醫院 |
Noonan syndrome |
Noonan spectrum Panel/ The Partners HealthCare Center for Personalized
Genetic Medicine(PCPGM)/ 美國 |
postive |
NT$30,000 |
|
103ID007 |
10.09 |
台大醫院 |
Mitochondrial disorder |
BCM Medical Genetics
Laboratories/Advanced mtDNA Point Mutations and
Deletions by Massively Parallel Sequencing (BCM-MitomeNGSSM)/
美國 |
Negative |
NT$10,000 |
|
103ID008 |
12.11 |
台大醫院 |
Mitochondrial disorder |
Whole Exome Sequencing / Baylor College of Medicine/ 美國 |
|
|
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共服務8人次，補助6案，本會補助167,585元 |
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