2006年度「國際醫療合作之代行檢驗」服務成果

 

編號

醫院

疑似疾病診斷

檢驗項目/國家

罕病醫療小組核准日期(國健局)

檢驗結果/日期

1

台大醫院

MMA

Methylmalonic Acid test/UKBB(瑞士)

94.03.10

MMA/94.1.4

2

林口長庚

Sialidosis

Neuraminidase enzyme activity/ Women's and Children's Hospital(澳洲)

94.03.10

細胞第一次送至澳州檢驗時,

因培養失敗,預再送第二次

3

台大醫院

Non-Ketotic Hyperglycinemia

DNA sequence of the T and P-protein gene/Molecular Genetics Lab.(加拿大)

94.03.22

NKH/95.8.14

4

台北馬偕

Idiopathic Infantile Calcification

Idiopathic Infantile Calcification/Muenster University Medical School(德國)

94.06.17

Carrier (mutation c.112A>T)(p.Y371F)/95.11.22

5

台大醫院

MMA

Methylmalonic Acid Test/UKBB(瑞士)

94.07.04

MMA/94.07.15

6

台大醫院

Urea Orotic acid

Amino Acids Quantitative Ion_Exchange,Plasma &Amino Acid Quantitative Ion-Exchange,Random Urine/Mayo Medical Laboratories(美國)

94.11.23

Hyperomithinemia-Hyperammonemia-Homocitrullinuria syndrome/94.11.03

7

台大醫院

Stiff-Person Syndrome

glutamic acid decarboxylase anti bodyassay/ Mayo Medical Laboratory(美國)

94.08.24

病患失聯,取消送檢

8

台大醫院

Fatty acid oxidation  defect

Fatty acid oxidation Profile Assay/ Mayo Medical Laboratory(美國)

94.10.05

Normal/95.03.14

9

台北馬偕

Tyrosinemia tpye I

Tyrosinemia I DNA analysis/Birmingham Children's Hospital(英國)

94.09.02

Normal/ 95.10.24

10

林口長庚

CF

CF DNAtest/Canterbury Health Lab(紐西蘭)

94.11.21

安排送檢中

11

台北榮總

Conradi Hunermann Syndrome

Conradi Hunermann Syndrome/Clinicak Chemist Lab.(荷蘭)

94.11.21

安排送檢中

12

台北馬偕

Pelizaeus-Merzbacher syndrome

FISH and PLP1 gene Sequencing analysis/Baylor College of Medicine(美國)

94.06.30

Normal/95.09.08

13

台北馬偕

Hallerman-Streiff Syndrome

Hallerman-Streiff Syndrome gene test/Molecular Neurogenetic Diagnostic Lab(美國)

94.06.07

Pending

14

林口長庚

Sialidosis

Neuraminidase enzyme activity/ Women's and Children's Hospital(澳洲)

95.01.04

Normal/94.11.30

15

林口長庚

Sialidosis

Neuraminidase enzyme activity/ Women's and Children's Hospital(澳洲)

95.01.04

Slalidosis/94.11.30

16

台大醫院

Fatty acid oxidation  defect

Fatty acid oxidation Profile Assay/ Mayo Medical Laboratory(美國)

94.11.28

Results are inconclusive/95.06.02

17

台大醫院

Galactosemia

Galactosemia/Emory Genetics Laboratory(美國)

95.01.04

Abnormal(Galactokinase)/95.02.01

18

台中榮總

Aromatic L-amino acid decarboxylase deficiency

CSF neurotransmitter,Blood AADC enzyme/Horizon Molecular medicine(美國)

94.06.06

Tyrosine hydroxylase deficiency/95.02.20

19

台大醫院

Nemaline rod myopath

Nemaline rod myopathy Gene test/The Beggs Lab.(美國)

95.01.04

送檢前經其主治醫師診斷為其他疾病,故取消送檢。

20

台大醫院

Facioscapulohumeral Muscular Dystrophy

FSHD DNA test/Athena Diagnostics(美國)

95.01.04

Pending

21

台中榮總

Niemann-Pick type C

Niemann-Pick type C / Women's and Children's Hospital (澳洲)

95.01.04

NPC/95.02.23

22

台中榮總

Ornithine transcarbamylase deficiency

Allopurinol test/ Children's National Medical Center(美國)

95.01.04

Carrier/95.01.18

23

台中榮總

Aromatic L-amino acid decarboxylase deficiency

CSF neurotransmitter,Blood AADC enzyme/Baylor University Medical Center(美國)

95.01.04

Tyrosine hydroxylase deficiency/95.06.20

24

台中榮總

Ornithine transcarbamylase deficiency

Allopurinol test/

Children's National Medical Center(美國)

95.01.04

Carrier/95.02.01

25

台北榮總

Homozygous Familial Hypercholesterolemia

Complete analysis of sterois plasma/Mayo clinic biochemical lab(美國)

95.01.04

Pending

26

台大醫院

GSD type IX

GSD type IX/Duke University Medical Center(美國)

94.05.25

GSD IX

27

台大醫院

Cystic Fibrosis

CF/Canterbury Health Lab(紐西蘭)

95.05.17

Normal/95.07.19

28

台大醫院

Cystic Fibrosis

CF/Canterbury Health Lab(紐西蘭)

95.05.17

Cystic Fibrosis/95.04.12

29

台大醫院

R/O GSD

GSD/Duke University Medical Center(美國)

95.05.17

GSD III/95.08.03

30

台中榮總

Persisten Hyperinsulinemic Hypoglycemia of Infancy

Hyperinsulinism DNA analysis/Children's Hospital of Philadephia(美國)

95.07.07

Pending

31

台中榮總

Persisten Hyperinsulinemic Hypoglycemia of Infancy

Hyperinsulinism DNA analysis/Children's Hospital of Philadephia(美國)

95.07.07

Pending

32

台中榮總

EDS ytpe IV

EDS IV  COL3A1 mutation analysis& Collangen screening/University of Washington Department of Pathology(美國)

95.06.12

EDS IV/95.07.31

33

台大醫院

Facioscapulohumeral Muscular Dystrophy

FSHD DNA test/Athena Diagnostics(美國)

95.05.17

Pending

34

台中榮總

MSUD

BCKD enzyme(產前)/Women's and Children's Hospital (澳州)

由中榮計畫主持人決定送檢

Fetus is not affected by MSUD

35

台中榮總

MSUD

Prenatal analysis of MSUD 1-C14 leucine metabolism/Women's and Children's Hospital(澳州)

由中榮計畫主持人決定送檢

Fetus is not affected by MSUD

36

高雄長庚

Organic Acidemias

3-Methylglutaconyl-CoA Hydratase enzyme/Lab Genetic Metabolic Disease. Academic Medical Center University(荷蘭)

95.08.03

安排送檢中

37

台中榮總

Kallmann syndrome

KAL 1 gene/UMC Niimegen 848 DNA Diagnostiek(荷蘭)

95.05.17

Pending

38

台大醫院

NCL (Neuronal ceroid lipofuscinosis)

NCL enzyme assy/Women's and Children's Hospital(澳洲)

95.08.03

Normal level of enzyme activity/ 95.09.26

39

台大醫院

Cockayne syndrome

assay of DNA repair/Genome Damage and Stability Centre(英國)

95.08.03

Pending

40

台大醫院

Aromatic L-amino acid decarboxylase deficiency

AADC enzyme assay/Horizon Molecular Medicine(美國)

95.05.17

Aromatic L-amino acid decarboxylase deficiency/95.05.03

41

慈濟台北分院

Mitochondrial disease

Mitochondrial DNA Point Mutation and Deletion Screen/Baylor Coollege of Medicine(美國)

95.06.12

Point mutation and deletions was not detected/95.07.12

42

成大醫院

Pelizaeus-Merzbacher syndrome

PLP1 gene/Molecular Diagnostics Laboratory(美國)

95.06.22

Pelizaeus-Merzbacher Disease/95.9.15

43

三軍總醫院

Infantile Neuronal Ceroid Lipofuscinonsis

Enzyme assay for CLN1 and CLN2/Children's Hospital and Regional Medical Center(美國)

95.05.17

Pending

44

林口長庚

Niemann-Pick type C

Cholesterol esterification & Filipin Stain(NPC)/Women's and Children's Hospital(澳洲)

95.05.17

Pending

45

台大醫院

Facioscapulohumeral Muscular Dystrophy

FSHD DNA test/Athena Diagnostics(美國)

95.05.17

Pending

46

台大醫院

Pelizaeus-Merzbacher syndrome

FISH Aand PLP1 gene assay/BCM美國

95.06.22

Duplication of the PLP gene /95.08.15

47

台大醫院

Urea Cycle disorders

liver CPSI and OTC enzyme assay/Children national medical center(美國)

95.08.03

安排送檢中

48

台大醫院

Fatty acid oxidation  defect

Fatty acid oxidation Profile Assay/ Mayo Medical Laboratory(美國)

95.08.03

no FAO evidence, R/O CACT & CPT-2/ 95.10.30

49

林口長庚

Sialidosis

Neuraminidase enzyme activity/ Women's and Children's Hospital(澳洲)

95.08.03

Pending

50

台大醫院

SCAD

SCAD deficiency,mutation screen/Mayo medical Lab(美國)

95.08.09

SCAD, Exon3: DNA change  360C>T; a.a change  N120N/95.8.25

51

台大醫院

SCAD

Fatty acid oxidation profile assy,SCAD deficiency,mutation screen/

Mayo medical Lab(美國)

95.08.09

SCAD, Exon3 G113R; Exon9 E344G/95.8.18; 95.8.25

52

台北榮總

Cystic Fibrosis

CF DNAtest/Canterbury Health Lab(紐西蘭)

95.08.09

NO CFTR gene mutations detected/95.9.22

53

台大醫院

Pelizaeus-Merzbacher syndrome

FISH Aand PLP1 gene assay/BCM美國

95.08.18

No evidence of a duplication for PMD95.09.13

54

台大醫院

Smitj-Lemli-Opitz Syndrome

SLO screen/ Mayo Medical Laboratory(美國)

95.09.01

Normal result of Smitj-Lemli-Opitz Syndrome test/ 95.11.10

55

台大醫院

Homocystinuria

VitB12 metabolism analysis/Montreal Children Hospital (加拿大)

98.08.18

Adenosylcobalamin and Methylcobalamin Low/95.11.10

56

台大醫院

Glycogen storage disorders type

Branching enzyme activity/ Duke University. Dr. Deeksha Bali (美國)

95.09.29

Normal / 95.11.14

57

新店慈濟

Niemann-Pick type C

Niemann-Pick type C enzyme assay/ Woman's & Children's Hospital, Dr. Michael Fietz (澳洲)

95.10.31

Pending

58

台大醫院

Mitochondrial defects

Mitochondrial Myopathy Profile/Women's and children's hospital of Buffalo(美國)

95.10.30

Pending

59

台大醫院

Fatty acid oxidation  defect

Fatty acid oxidation Profile Assay/ Mayo Medical Laboratory(美國)

Pending

Pending

60

台大醫院

Niemann Pick type C

Niemann-Pick type C / Women's and Children's Hospital(澳洲)

95.10.30

Pending

61

台大醫院

Mitochondrial defects

Mitochondrial Myopathy Profile/Baylor Coollege of Medicine(美國)

95.11.14

Pending

62

林口長庚

Sialidosis

Neuraminidase enzyme activity/ Women's and Children's Hospital(澳洲)

95.10.31

Pending

63

馬偕醫院

Myotubular Myopathy

MTM1 matation analysis/ The University Chicago Genetic Services (美國)

95.8

Pending

64

台大醫院

Methylmalonic acidemia

Methylmalonic acid test/ McGill University; Dr. David S. Rosenblatt's lab (加拿大)

自送案

Pending

65

台大醫院

Mitochondrial defects

US, Emory University Department of Human Genetics

自送案

Pending

66

台大醫院

NF1

US, Univ. of Alabama at Birmingham, Dr. Bruce K

自送案

Pending

以上共計66件,總補助金額為新台幣407,110

 

:表列之個案為本會當年度服務之個案