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2006年度「國際醫療合作之代行檢驗」服務成果 |
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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 |
|
|
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 |
|
|
|
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 COL |
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 |
|
|
51 |
台大醫院 |
SCAD |
Fatty acid
oxidation profile assy,SCAD deficiency,mutation
screen/ Mayo medical
Lab(美國) |
95.08.09 |
SCAD, Exon |
|
|
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 Ⅳ |
Branching
enzyme activity/ |
95.09.29 |
|
|
|
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/ |
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, |
自送案 |
Pending |
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共服務66人次，補助36案，國民健康局補助408,405元，本會補助408,411元 |
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註：表列之個案為本會當年度服務之個案 |
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