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2007年度國內各醫院送檢結果統計表 |
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編號 |
醫院 |
疑似疾病診斷 |
檢驗機構/項目/國家 |
檢驗結果/日期 |
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1 |
台大醫院 |
CF |
CF/Canterbury Health Lab(紐西蘭) |
Normal/95.07.19 |
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|
2 |
台大醫院 |
CF |
CF/Canterbury Health Lab(紐西蘭) |
CF/95.12.04 |
|
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3 |
台中榮總 |
Persisten Hyperinsulinemic Hypoglycemia of Infancy |
Hyperinsulinism DNA analysis/ Children's Hospital of Philadephia(美國) |
No found? mutations/96.02.14 |
|
|
4 |
台中榮總 |
Persisten Hyperinsulinemic Hypoglycemia of Infancy |
Hyperinsulinism DNA analysis/ Children's Hospital of Philadephia(美國) |
No found? mutations/96.02.14 |
|
|
5 |
高雄長庚 |
Organic Acidemias |
3-Methylglutaconyl-CoA Hydratase enzyme/Academic Medical Center
University(荷蘭) |
Low 3-Methyl Glutaconyl-CoA Hydratase/
96.06.07 |
|
|
6 |
台中榮總 |
Kallmann syndrome |
KAL 1 gene/UMC Niimegen 848 DNA Diagnostiek(荷蘭) |
Not caused by a mutation in the KAL1 gene/96.03.08 |
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7 |
台大醫院 |
Cockayne syndrome |
assay of DNA repair/ Genome Damage and Stability Centre(英國) |
Cockayne syndrome/95.12.21 |
|
|
8 |
台大醫院 |
Facioscapulohumeral Muscular Dystrophy |
FSHD DNA test/Athena Diagnostics(美國) |
FSHD/96.01.02 |
|
|
9 |
台大醫院 |
FSHD |
FSHD DNA test/Athena Diagnostics(美國) |
FSHD/96.01.15 |
|
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10 |
台北榮總 |
Homozygous Familial Hypercholesterolemia |
Complete analysis of sterois plasma/Mayo
clinic biochemical lab(美國) |
檢驗失敗/96.01 |
|
|
11 |
三軍總醫院 |
Infantile Neuronal Ceroid Lipofuscinonsis |
Enzyme assay for CLN1 and CLN2/Children's Hospital and Regional
Medical Center(美國) |
Normal/96.12.22 |
|
|
12 |
林口長庚 |
Niemann-Pick type C |
Cholesterol esterification & Filipin
Stain(NPC)/Women's and Children's Hospital(澳洲) |
Niemann-Pick type C |
|
|
13 |
台大醫院 |
Facioscapulohumeral Muscular Dystrophy |
FSHD DNA test/Athena Diagnostics(美國) |
FSHD/96.12.22 |
|
|
14 |
台大醫院 |
Urea Cycle disorders |
liver CPSI and OTC enzyme assay/Children national medical center(美國) |
No OTC activity, CPS1 actinity
is at 47% of control/ 96.03.12 |
|
|
15 |
林口長庚 |
Sialidosis |
Neuraminidase enzyme activity/ Women's and Children's Hospital(澳洲) |
Sialiodosis/96.12.28 |
|
|
16 |
台大醫院 |
Smitj-Lemli-Opitz Syndrome |
SLO screen/ Mayo Medical Laboratory（美國） |
Normal result of Smitj-Lemli-Opitz Syndrome
test/ 95.11.10 |
|
|
17 |
新店慈濟 |
Niemann-Pick type C |
Niemann-Pick type C enzyme assay/ Woman's & Children's Hospital, Dr.
Michael Fietz (澳洲) |
Normal/95.12.15 |
|
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18 |
台大醫院 |
Mitochondrial defects |
Mitochondrial Myopathy Profile/Women's and children's hospital of
Buffalo(美國) |
Barth syndrome/ Y51X mutation/
96.01.25 |
|
|
19 |
台大醫院 |
Fatty acid oxidation? defect |
Fatty acid oxidation Profile Assay/ Mayo Medical Laboratory（美國） |
Normal/96.05.10 |
|
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20 |
台大醫院 |
Niemann-Pick type C |
Niemann-Pick type C / Women's and Children's Hospital(澳洲) |
Niemann-Pick type C/96.02.19 |
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21 |
台大醫院 |
Mitochondrial defects |
Mitochondrial Myopathy Profile/ Baylor College of Medicine(美國) |
No mutations were detected/ 96.01.25 |
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22 |
林口長庚 |
Sialidosis |
Neuraminidase enzyme activity/ Women's and Children's Hospital(澳洲) |
Sialidosis/95.12.28 |
|
|
23 |
台大醫院 |
SCAD |
SCAD deficiency mutation / Mayo clinic? screen(美國) |
Carrier of one SCAD gene mutation/96.03.13 |
|
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24 |
台大醫院 |
Pseudoachondroplasia |
Multiple epiphyseal dysplasia(MED) gene mutation analysis / Connective
Tissue Gene Tests (美國) |
No mutation was detected/ 96.4.30 |
|
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25 |
台大醫院 |
Niemann-Pick type C |
NPC enzyme assay / Woman's & Children's Hospital (澳洲) |
Niemann-Pick type C |
|
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26 |
台大醫院 |
UCD |
Allopurinol test/ Children's National Medical Center (美國) |
Normal/ 96.01.31 |
|
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27 |
台大醫院 |
Mitochondrial disorders |
DNA sequence analysis of G4.5/TAZ1 / Nemours Children's Clinic (美國) |
No mutation/ 96.01.25 |
|
|
28 |
中國醫藥大學 附設醫院 |
Urea Cycle disorder |
Arginase analysis/ Baylor College of Medicine (美國) |
Normal/ 96.04.03 |
|
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29 |
馬偕醫院 |
UCD |
Allopurinol test/ Children's National Medical Center (美國) |
Carrier / 96.03.22 |
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30 |
台中榮總 |
Aromatic L-amino acid decarboxylase deficiency |
AADC enzyme assay/ Horizon Molecular Medicine (美國) |
Normal/96.04 |
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31 |
馬偕醫院 |
Cockayne syndrome |
DNA repair assay /Genome Damage and Stability Center (英國) |
Cockayne syndrome/96.09.25 |
|
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32 |
台大醫院 |
Primary Carnitine Deficiency |
Fatty acid oxidation profile assay/ Mayo clinic? (美國) |
No abnormalities / 96.07.10 |
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33 |
馬偕醫院 |
MSUD |
MSUD/ Children's National Medical Center/(美國) |
MSUD/96.08.09 |
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34 |
台大醫院 |
Oligosaccharidosis |
TLC urine test & sialic acid test / Woman's & Children's Hospital (澳洲) |
Normal/96.05.31 |
|
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35 |
台大醫院 |
Citrullinemia type I |
Citrullinemia biochemical test/ Baylor College of Medicine? (美國) |
Low enzyme activity but not affected / 96.06.26 |
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36 |
台大醫院 |
FSHD |
FSHD DNA test /Athena Diagnostics (美國) |
FSHD/96.06.11 |
|
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37 |
台大醫院 |
FSHD |
FSHD DNA test /Athena Diagnostics (美國) |
Pending |
|
|
38 |
林口長庚 |
FSHD |
FSHD DNA test /Athena Diagnostics(美國) |
FSHD/96.06.11 |
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39 |
成大醫院 |
congenital generalized lipodystrophy |
Bscl2 and Bscl1 genes /Pascale Hilbert (比利時) |
Congenital generalized lipodystrophy/96.06.05 |
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40 |
成大醫院 |
Smith-Lemli-Opitz
syndrome |
7 and 8-DHC / Mayo Medical Laboratories (美國) |
Negative/96.07.16 |
|
|
41 |
台大醫院 |
Galactosemia |
G-1-P, GALT, Galactokinase and epimerase
enzyme assay/ Emory Genetics Laboratory (美國) |
Abnormal/96.06.06 |
|
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42 |
林口長庚 |
Porphria |
ALA dehydratase enzyme activity/ Mayo Medical Laboratories(美國) |
Normal/96.04.2 |
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43 |
台中榮總 |
Carnitine deficiency syndrome |
Fatty acid probe assay/ Mayo Medical Lab(美國) |
Normal/96.08.13 |
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44 |
台中榮總 |
Carnitine deficiency syndrome |
Fatty acid probe assay/ Mayo Medical Lab(美國) |
Normal/96.12.05 |
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45 |
台大醫院 |
OTC |
OTC and CPSI enzyme assay / Children's National Medical Center(美國) |
No OTC activity/96.07.24 |
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46 |
台大醫院 |
HSP |
SPG4, SPG3A, SPG31,SP6/ Athena Diagnostics(美國) |
Pending |
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47 |
中國醫藥大學 附設醫院 |
Ataxia telangiectasia |
ATM gene assay/City of hope Clinical Molecular Diagnostic Lab. (美國) |
Postive/96.10.15 |
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48 |
馬偕醫院 |
MSUD |
Branched-chain amino acids enzyme assay/Woman's & Children's
Hospital (澳州) |
Fetus is not affected by MSUD/96.09.04 |
|
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49 |
中國醫藥大學 附設醫院 |
MPS I |
MPS I gene assay/ Emory Genetics Laboratory (美國) |
Two mutations were detected in the IDUA gene/96.10.22 |
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50 |
中國醫藥大學 附設醫院 |
MPS I |
MPS I gene assay/ Emory Genetics Laboratory (美國) |
Mutation was detected in the IDUA gene/96.10.31 |
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51 |
高雄醫學大學 附設醫院 |
Carnitine deficiency syndrome |
Fatty acid probe assay / Mayo Medical Lab. (美國) |
檢體培養失敗 |
|
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52 |
台大醫院 |
FSHD |
FSHD DNA test/ Athena Diagnostics(美國) |
Pending |
|
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53 |
高雄醫學大學 附設醫院 |
Carnitine deficiency syndrome |
Fatty acid probe assay/ Mayo Medical Lab (美國) |
檢體培養失敗 |
|
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54 |
台中榮總 |
AADC |
AADC CSF neurotransmitter/ Horizon Molecular Medicine (美國) |
Normal/96.11.02 |
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55 |
台大醫院 |
Sialidosis |
Neuraminidase enzyme activity/ Women's and Children's Hospital(澳洲) |
目前暫不送,待其主治醫師決定 |
|
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56 |
台大醫院 |
Pseudoachondroplasia |
Multiple epiphyseal dysplasia(MED) gene mutation analysis/ Connective
Tissue Gene Tests (美國) |
Pseudoachondroplasia/96.09.20 |
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57 |
高雄長庚 |
Organic Acidemias |
3-Methylglutaconyl-CoA Hydratase Molecularanalysis
/ Academic Medical Center Universtity (荷蘭) |
Pending |
|
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58 |
馬偕醫院 |
OTC |
Allopurinol test / Children's National Medical Center (美國) |
因Children's National Medical Center未針對6個月以下疑似患者進行檢驗，故擬於96年12月中患童滿6個月後再進行檢驗。 |
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59 |
台大醫院 |
OTC |
Allopurinol test / Children's National Medical Center (美國) |
Carrier/96.09.12 |
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60 |
成大醫院 |
Leigh Disease |
POLG gene sequence/ Baylor College of Medicine (美國) |
no mutation/96.10.04 |
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61 |
成大醫院 |
Leigh Disease |
POLG gene sequence/ Baylor College of Medicine (美國) |
Test not performed since no mutations were identified in the affected
child's sample/96.10.04 |
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62 |
中國醫藥大學 附設醫院 |
Wilson's disease |
GMbH/Wilson's gene analysis(德國) |
exon2,3,5,8,11,12,13,16,17,18 of the ATP gene no motations
or changes/96.11.02 |
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63 |
台大醫院 |
Citrullinemia type I |
ASS sequencing / Baylor College of Medicine (美國) |
等待送審醫師補件中 |
|
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64 |
台大醫院 |
Citrullinemia type I |
Citrullinemia biochemical test/ Baylor College of Medicine (美國) |
轉送成大檢驗 |
|
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65 |
台大醫院 |
CF |
CF 29 arms assay & DHPLC / Canterbury Health Laboratories (紐西蘭) |
CF(homozygous for c.1766+5G>T) /
96.11.06 |
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66 |
台大醫院 |
CF |
CF 29 arms assay & DHPLC / Canterbury Health Laboratories (紐西蘭) |
安排送檢中 |
|
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67 |
台大醫院 |
Cockayne syndrome |
Prenatal test DNA repair assay / Genome Damage and Stability Center (英國) |
Fetus is? affected by Cockayne
syndrrome/96.11.29 |
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68 |
花蓮慈濟醫院 |
MSUD |
Woman's & Children's Hospital / branched-chain amino acids enzyme assay(澳州) |
Fetus is not affected by MSUD / 96.11.15 |
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69 |
花蓮慈濟醫院 |
Niemann-Pick type C |
NPC enzyme assay/ Woman's & Children's Hospital (澳州) |
等待醫事處出口公文 |
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70 |
中國醫藥大學 附設醫院 |
Wilson's disease |
ATP7B DNA seuencing / Mayo medical laboratories (美國) |
Pending |
|
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71 |
台大醫院 |
Mitochondrial disorders |
SCO1 sequencing/ Baylor College of Medicine? (美國) |
安排送檢中 |
|
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72 |
台大醫院 |
Alstrom syndrome |
ALMS1 gene sequencing/ Centogene GmbH (德國 ) |
等待醫事處出口公文 |
|
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73 |
台中榮總 |
Congenital generalized lipodystrophy |
BSCL1 genes mutation analysis/Institut de Pathologle et de Genetlque
Centre(比利時) |
等待醫事處出口公文 |
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74 |
臺大醫院 |
Mitochondrial disorders |
Nemours Children’s Clinic / DNA sequence analysis? of G4.5/TAZ1(美國) |
Carrier/ 96.01.25 |
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共服務74人次，補助51案，國民健康局補助658,277元，本會補助732,732元 |
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註（1）表列之個案為本會當年度服務之個案。 註（2）基金會補助之費用統計，含部份患者無能力自付20%部分。 註（3）74案中有一案之檢驗費為個案全額自費。 |
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