2001-2013國際醫療合作代行檢驗服務檢體外送統計數量一覽
項次	檢驗項目(檢驗疾病)	90年	91年	92年	93年	94年	95年	96年	97年	98年	99年	100年	101年	102年	合計
1	DNA repair assay (Cockayne syndrome)	0	0	0	2	3	1	2	1	1	0	0	0	0	10
2	FSHD DNA testing(FSHD)	0	0	0	5	1	2	4	1	2	9	5	0	0	29
3	CFTR gene analysis (CF)	0	0	1	4	1	3	2	1	0	0	0	0	0	12
4	Idiopathic Infantile Calcification (Neuronal ceroid lipofuscinosis)	0	0	0	0	1	0	0	0	0	0	0	0	0	1
5	FAH Gene Sequence Analysis（Hereditary Tyrosinemia I）	0	0	0	0	0	0	0	1	0	0	0	0	0	1
6	Conradi-Hunermann Syndrome (CHS)	0	0	0	0	1	0	0	0	0	0	0	0	0	1
7	CMT2A-MFN2 DNA Sequencing Test (Charcot Marie Tooth Disease)	0	0	0	0	1	0	0	0	0	0	0	0	0	1
8	FISH and PLP1 gene Sequencing analysis (Pelizaeus-Merzbacher Disease)	0	0	0	0	1	2	0	0	1	0	0	0	0	4
9	Hallerman-Streiff Syndrome gene test (Hallerman-Streiff Syndrome)	0	0	0	0	1	0	0	0	0	0	0	0	0	1
10	Nemaline rod myopathy Gene test (Nemaline rod myopathy)	0	0	0	0	1	0	0	0	0	0	0	0	0	1
11	CLN2 and CLN3 DNA analysis(Neuronal ceroid lipofuscinosis)	0	0	0	1	0	0	0	0	0	0	0	0	0	1
12	BWS UPD and KvDMR(methylation) assay (BWS)	0	0	1	1	0	0	0	0	0	0	0	0	0	2
13	ATP-7A DNA analysis (Menkes disease)	0	0	0	1	0	0	0	0	0	0	0	0	0	1
14	Hyperinsulinism DNA analysis (Hyperinsulinism)	0	0	0	0	0	2	0	0	0	0	0	0	0	2
15	EDS IV COL3A1 mutation analysis& Collangen screening (EDS)	0	0	0	0	0	1	0	0	0	1	0	0	0	2
16	KAL 1 gene(Kallmann syndrome)	0	0	0	0	0	1	0	0	0	0	0	0	0	1
17	Multiple epiphyseal dysplasia（MED）gene mutation analysis （Pseudoachondroplasia）	0	0	0	0	0	0	2	0	0	0	0	0	0	2
18	SPG4, SPG3A, SPG31, SP6 gene analysis（HSP）	0	0	0	0	0	0	1	0	0	0	0	0	0	1
19	ATM gene assay （Ataxia telangiectasia）	0	0	0	0	0	0	1	0	0	0	0	0	0	1
20	MPS I gene assay (MPS)	0	0	0	0	0	0	2	0	0	0	0	0	0	2
21	POLG gene sequence (Mitochondrial Disease)	0	0	0	0	0	0	2	1	1	0	1	1	0	6
22	Bscl2 and Bscl1 genes （congenital generalized lipodystrophy）	0	0	0	0	0	0	2	0	3	0	0	0	0	5
23	Short-Chain acyl-CoA Dehydrogenase Mutation screen (Short-Chain Acyl-CoA Dehydrogenases Deficiency)	0	0	0	0	0	2	1	0	0	0	0	0	0	3
24	ALMS1 gene sequencing（Alstrom syndrome）	0	0	0	0	0	0	1	1	0	1	0	0	0	3
25	LAMB3 sequencing（Junctional Epidermolysis Bullosa；JEB）	0	0	0	0	0	0	0	1	0	0	0	0	0	1
26	GCK gene(PHHI)	0	0	0	0	0	0	0	1	0	0	0	0	0	1
27	ROR2 gene sequence analysis（Robinow Syndrome）	0	0	0	0	0	0	0	1	1	0	0	0	0	2
28	MECP2 deletion analysis（Rett syndrome）	0	0	0	0	0	0	0	1	0	0	0	0	0	1
29	BBS1 gene test（Bardet-Biedl syndrome）	0	0	0	0	0	0	0	1	1	0	0	0	0	2
30	CREBBP sequencing （Rubinstein-Taybi syndrome）	0	0	0	0	0	0	0	1	0	0	0	0	0	1
31	LIS1 mutation analysis （Miller-Dieker Syndrome）	0	0	0	0	0	0	0	1	0	1	0	0	0	2
32	GSD type III gene test （GSD type III）	0	0	0	0	0	0	0	1	0	0	0	0	0	1
33	SPG7 gene test （Hereditary spastic Paraplegia）	0	0	0	0	0	0	0	1	0	0	0	0	0	1
34	ARSA gene sequencing(MLD)	0	0	0	0	0	0	0	0	1	0	0	0	0	1
35	ASS gene sequencing(Citrullinemia type 1)	0	0	0	0	0	0	1	0	2	0	0	0	0	3
36	CPS1 Sequencing(Urine cycle disorder)	0	0	0	0	0	0	0	0	1	0	0	0	0	1
37	SLC12A1 gene sequence (Bartter's Syndrome)	0	0	0	0	0	0	0	0	1	0	0	0	0	1
38	GNAS Gene Sequence Analysis(McCune Albright syndrome)	0	0	0	0	0	0	0	0	2	3	2	0	0	7
39	Primary Carnitine Deficiency Syndrome gene test(Primary Carnitine Deficiency Syndrome)	0	0	0	0	0	0	0	0	1	0	0	0	0	1
40	GNPTAB gene analysis(Mucolipidosis)	0	0	0	0	0	0	0	0	1	0	0	0	0	1
41	ACTA1 Gene Sequence (Nemaline Myopathy)	0	0	0	0	0	0	0	0	1	0	0	0	0	1
42	HLCS Gene Sequence Analysis (Multiple carboxylase deficiency)	0	0	0	0	0	0	0	0	1	0	0	0	0	1
43	MPS III a full gene sequencing(MPS IIIa)	0	0	0	0	0	0	0	0	1	0	0	0	0	1
44	PMM2 gene test(CDG Ia)	0	0	0	0	0	0	0	0	1	2	0	0	0	3
45	GSD IIIb gene sequencing(GSD III)	0	0	0	0	0	0	0	0	1	0	0	0	0	1
46	BBS10 gene tes(Bardet-Biedl syndrome)	0	0	0	0	0	0	0	0	1	0	0	0	0	1
47	COL3A1 gene test (EDS IV)	0	0	0	0	0	0	0	0	1	0	0	0	0	1
48	Carnitine palmitoyl transferase 1 enzyme test (Carnitine palmitoyltransferase -1 deficiency)	0	0	0	0	0	0	0	0	1	0	0	0	0	1
49	GCK gene and GLUD1 gene test(PHHI)	0	0	0	0	0	0	0	0	1	1	0	0	0	2
50	G 4.5/taz gene mutation detection(Mitochondrial disease)	0	0	0	0	0	1	1	0	0	0	0	0	0	2
51	Exon 2,3,5,8,11,12,13,16,17,18 of the ATP (Wilson’s disease)	0	0	0	0	0	0	1	0	0	0	0	0	0	1
52	SCO1 sequencing (Mitochondrial defect)	0	0	0	0	0	0	1	0	0	0	0	0	0	1
53	ATP7B fullgene sequencing (Wilson’s disease )	0	0	0	0	0	0	1	0	0	0	0	0	0	1
54	3-Methylglutaconyl-CoA Hydratase gene (AUH) test(3MCC)	0	0	0	0	0	0	1	0	0	0	0	0	0	1
55	LHON sequencing(Mitochondrial disease)	0	0	0	0	0	1	0	0	0	0	0	0	0	1
56	SPG4 gene analysis（HSP）	0	0	0	0	0	0	0	1	0	0	0	0	0	1
57	SPG3A, SPG31, SP6 gene analysis （HSP）	0	0	0	0	0	0	0	1	0	0	0	0	0	1
58	Carnitine-acylcarnitine translocase enzyme test(Fatty acid oxidation defect)	0	0	0	0	0	0	0	1	0	0	0	0	0	1
59	Glycine decaroxylase (GLDC)gene test (non-ketoic hyperglycinemia)	0	0	0	0	1	0	0	0	0	0	0	0	0	1
60	Fumarylacetacetase(FAA) Gene Sequence Analysis （Hereditary Tyrosinemia I）	0	0	0	0	1	0	0	0	0	0	0	0	0	1
61	Proteolipid protein 1 (PLP1) gene analysis Pelizaeus-Merzbacher Disease)	0	0	0	0	0	1	0	0	0	0	0	0	0	1
62	Methylmalonic Acid test(Methylmalonic Acid)	3	0	1	1	3	0	0	0	0	0	0	0	0	8
63	Carbohydrate deficient transferring(CDG)	0	0	2	0	3	0	0	0	0	0	0	0	0	5
64	Allopurine test (UCD)	2	5	3	1	3	0	4	4	2	0	1	0	0	25
65	Urea Orotic acid(UCD)	0	0	0	0	2	0	0	0	0	0	0	0	0	2
66	Fatty acid oxidation Profile Assay(Carnitine deficiency syndrome)	0	0	0	0	2	0	5	0	0	0	0	0	0	7
67	Oligosaccharide Screen (Mucolipidosis)	0	0	0	1	1	0	0	0	0	0	0	0	0	2
68	Propinyl-coA carboxylase activity analysis(PA)	0	0	2	0	1	0	0	0	0	0	0	0	0	3
69	Smith-Lemli-Opitz screen（Smith-Lemli-Opitz syndrome）	1	0	0	0	1	1	1	1	2	0	0	0	0	7
70	Complete analysis of sterois plasma(Homozygous Familial Hypercholesterolemia) Conradi-Hunermann Syndrome	0	0	0	0	1	0	0	0	0	0	0	0	0	1
71	Mitochondrial Myopathy Profile(Mitochondrial disease)	0	0	3	1	0	1	0	0	0	0	0	0	0	5
72	In-vitro probe of FAT Oxidation Defects (Fatty acid oxidation defect)	5	0	2	2	0	2	0	0	0	0	0	0	0	11
73	TMA/TMANO analysis(Trimethylaminuria)	0	0	1	0	0	0	0	0	0	0	0	0	0	1
74	VitB12 metabolism analysis(Homocystinuria)	0	0	0	0	0	1	0	0	0	0	0	0	0	1
75	Neurotransmitters analysis; Enzymes (DHPR, PTPS, GTPCH, SR) （Tetrahydrobiopterin deficiency）	0	0	0	0	0	0	0	2	0	0	0	0	0	2
76	Sulfite analyte:S-sulfocysteine（Sulfite Ocidase deficiency）	0	0	0	0	0	0	0	1	0	0	0	0	0	1
77	NMO-IgG Serum（Multiple Sclerosis）	0	0	0	0	0	0	0	3	0	1	0	0	0	4
78	The acyl-carnitine profiles and ETF Immunoblots(GA II)	0	0	1	0	0	0	0	0	2	0	0	0	0	3
79	Oligosaccharide Screen and Free Sialic Acid(Mucolipidos )	0	0	0	0	0	0	1	0	0	0	0	0	0	1
80	CSF neurotransmitter(AADC)	0	0	0	0	2	0	1	0	0	0	0	0	0	3
81	Leucine Decarboxylation assay test(MSUD)	0	0	0	0	0	2	1	1	0	0	0	0	0	4
82	Amino Acids Quantitative Ion-Exchange(UCD)	0	0	0	0	1	0	0	0	0	0	0	0	0	1
83	Galactosemia enzyme assay (Galactosemia)	0	2	1	3	5	0	1	0	0	0	0	0	0	12
84	Serum AADC enzyme assay and CSF neurotransmitter test（AADC）	0	0	0	4	3	0	0	0	0	0	0	0	0	7
85	Neuraminidase enzyme assay(Sialidosis)	0	1	2	7	4	2	1	0	0	2	0	0	0	19
86	MSUD enzyme assa（MSUD）	0	1	3	1	3	0	2	0	0	0	0	0	0	10
87	GSD type III enzyme assay （GSD）	0	2	1	1	2	1	0	0	0	1	0	0	0	8
88	GSD type IV enzyme assay （GSD）	0	0	0	0	0	1	0	0	0	0	0	0	0	1
89	GSD IX enzyme assay（GSD）	0	0	0	0	2	0	0	0	3	0	0	0	0	5
90	Glutaryl-CoA Dehydrogenase Activity assay(GA I)	0	0	0	0	1	0	0	0	0	0	0	0	0	1
91	MPS III enzyme assay （MPS）	1	0	3	1	1	0	0	0	0	0	0	0	0	6
92	MPS II enzyme assay（MPS）	1	1	0	0	0	0	0	0	0	0	0	0	0	2
93	Hypoxanthine-Guanine Phosphoribosyl transferase prenatal assay (Lesch-Nyhan syndrome)	0	1	0	0	1	0	0	0	0	0	1	0	0	3
94	GSD type IV enzyme assay（GSD）	0	0	0	0	1	0	0	0	0	0	0	0	0	1
95	Argininosuccinate Synthetase enzymte test (Citrullinemia)	0	0	0	0	1	0	2	1	0	0	0	0	0	4
96	3-Methyl-Crotonyl-CoA Carboxylase Deficiency(3MCC)	0	1	6	5	0	0	0	0	0	0	0	0	0	12
97	Pyruvate dehydrogenase enzyme assay(Pyruvate dehydrogenase)	0	0	0	2	0	0	0	0	0	0	0	0	0	2
98	Carbamyl phosphate synthetase (CPS) & ornithine transcarbamy (UCD)	0	1	2	1	0	1	1	1	1	0	0	0	0	8
99	Short-Chain acyl-CoA Dehydrogenase enzyme assay(Short-Chain Acyl-CoA Dehydrogenases Deficiency)	0	0	0	1	0	0	0	0	0	0	0	0	0	1
100	Neurolipidoses Screen(Mucolipidosis)	0	1	0	0	0	0	0	0	0	0	0	0	0	1
101	DHAP-S and DHAP-AT enzyme assay (Zewelleger disease)	0	0	1	0	0	0	0	0	0	0	0	0	0	1
102	Cystathionine B-synthase enzyme assay (Homocystinuria)	0	2	0	0	0	0	0	0	0	0	0	0	0	2
103	3-Methylglutaconyl-CoA Hydratase enzyme assa (3MCC)	0	0	0	0	0	1	0	0	0	0	0	0	0	1
104	NCL enzyme assy (NCL)	0	0	0	0	0	1	0	0	0	0	0	0	0	1
105	Enzyme assay for CLN1 and CLN2 (Infantile Neuronal Ceroid Lipofuscinonsis)	0	0	0	0	0	1	0	0	0	0	0	0	0	1
106	ALA dehydratase enzyme activity（Porphria）	0	0	0	0	0	0	1	0	0	0	0	0	0	1
107	HPRT enzyme analysis（Lesch Nyhan syndrome）	0	0	0	0	0	0	0	1	0	0	0	0	0	1
108	CPT I enzyme assay（Fatty acid oxidation defects）	0	0	0	0	0	0	0	1	0	0	0	0	0	1
109	CPT II enzyme assay（Fatty acid oxidation defect）	0	0	0	0	0	0	0	2	0	0	0	0	0	2
110	HLCS gene sequencing（Multiple carboxylase deficiency）	0	0	0	0	0	0	0	1	0	0	0	0	0	1
111	TP63 gene analysis （Split-hand/ Split-foot malformation）	0	0	0	0	0	0	0	1	0	0	0	0	0	1
112	Sphingomyelinase （Niemann-Pick type A+B）	0	1	0	0	0	0	0	0	0	0	0	0	0	1
113	Arginase analysis (UCD)	0	0	0	0	0	0	1	0	0	0	0	0	0	1
114	AADC enzyme assay(AADC)	0	0	0	0	0	1	1	0	0	0	0	0	0	2
115	Gaucher disease enzyme assay + Sphingomyelinase (Gaucher)	0	0	0	1	0	0	0	0	0	0	0	0	0	1
116	Cholesterol esterification assay Niemann Pick type C test(NPC)	0	0	1	0	0	0	0	0	0	0	0	0	0	1
117	Glutamic acid decarboxylase antibody assay (Stiff person syndrome)	0	0	0	0	1	0	0	0	0	0	0	0	0	1
118	mtDNA content in Muscle (Mitochondrial disease)	0	0	0	0	0	0	0	0	1	0	0	0	0	1
119	Filipin staining for Niemann Pick type C(Niemann Pick disease)	0	0	0	0	2	1	0	1	1	0	0	0	0	5
120	Glutaryl-CoA Dehydrogenase Activity assay and DNA diagnosis (GA I)	0	1	1	1	0	0	0	0	0	0	0	0	0	3
121	Cholesterol esterification assay + filipin staining (Niemann Pick type A+B+C)	1	3	0	1	2	2	2	0	1	0	0	0	0	12
122	Fatty acid oxidation Profile Assay+Respiratory chain complex (Mitochondrial disease`)	0	0	1	0	0	0	0	0	0	0	0	0	0	1
123	Sphingomyelinase+ filipin staining (Niemann Pick type A+B+C)	1	0	4	0	0	0	0	0	0	0	0	0	0	5
124	ETC enzyme activity and Thymidine phosphorylase sequencing(Mitochondrial disease)	0	0	0	0	0	0	0	0	1	0	0	0	0	1
125	GSD IX gene (GSD)	0	0	0	0	0	0	0	0	0	1	0	0	0	1
126	GSD VI enzyme (GSD)	0	0	0	0	0	0	0	0	0	1	0	0	0	1
127	Sequencing and deletiont-duplication testing in CREBBP gene testing (Rubinstein-Taybi syndrome)	0	0	0	0	0	0	0	0	0	1	0	0	0	1
128	OTC exon 1 deletion test (Urea cycle disorders)	0	0	0	0	0	0	0	0	0	1	0	0	0	1
129	Porphyrins Quantitative urine and faeces＆UPG IIIs assay(PHHI)	0	0	0	0	0	0	0	0	0	1	0	0	0	1
130	WFS1 gene sequencing (Wolfram syndrome)	0	0	0	0	0	0	0	0	0	1	0	0	0	1
131	GSD VI gene sequencing test (GSD)	0	0	0	0	0	0	0	0	0	1	0	0	0	1
132	MNGLE gene test (Mitochondrial Disease)	0	0	0	0	0	0	0	0	0	1	0	0	0	1
133	ACADVL gene sequencing (VLCAD)	0	0	0	0	0	0	0	0	0	2	0	0	0	2
134	BBS10 gene test (BBS)	0	0	0	0	0	0	0	0	0	1	0	0	0	1
135	3-Hydroxy-3-methylglutaryl-CoA lyase activity test (3-Hydroxy-3-Methyl-Glutaric Acidemia)	0	0	0	0	0	0	0	0	0	1	0	0	0	1
136	Pyruvate dehydrogenase activity test (Pyruvate dehydrogenase deficiency)	0	0	0	0	0	0	0	0	0	2	0	0	0	2
137	ABCC8 gene sequencing test (PHHI)	0	0	0	0	0	0	0	0	0	2	0	0	0	2
138	POLG, DGUOK, MPV17 gene mutation analysis (Mitochondrial Disease)	0	0	0	0	0	0	0	0	0	1	0	0	0	1
139	Nonketotic Hyperglycinemia Enzymatic diagnosis (Nonketotic hyperglycinemia)	0	0	0	0	0	0	0	0	0	0	1	0	0	1
140	Pyruvate Dehydrogenase Complex(Mitochondrial defect)	0	0	0	0	0	0	0	0	0	0	1	0	0	1
141	Pyruvate carboxylase(PC) gene sequencing test(Mitochondrial defect)	0	0	0	0	0	0	0	0	0	0	1	0	0	1
142	GFAP full gene sequencing(Alexander disease)	0	0	0	0	0	0	0	0	0	0	1	0	0	1
143	BBS 2 gene test(Bardet-Biedl syndrome)	0	0	0	0	0	0	0	0	0	0	1	0	0	1
144	PDHA1 gene mutation analysis(pyruvate dehydrigenase deficiency)	0	0	0	0	0	0	0	0	0	0	1	0	0	1
145	GLB1 gene sequencing test(GM1/GM2 gangliosidosis )	0	0	0	0	0	0	0	0	0	0	1	0	0	1
146	CLCN1 gene sequencing (Myotonia congenita)	0	0	0	0	0	0	0	0	0	0	0	1	0	1
147	a GALC Gene Sequencing and Exons 11-17 (502T/Del) Deletion (Krabbe Disease)	0	0	0	0	0	0	0	0	0	0	0	1	0	1
148	Myh3 bi- directional sanger sequencing 、deletion/duplication testing(Freeman-Sheldon Syndrome)	0	0	0	0	0	0	0	0	0	0	0	1	0	1
149	PRS19 sequencing and deletion/duplication test(Diamond Blackfan Anemia)	0	0	0	0	0	0	0	0	0	0	0	1	1	2
150	DYSF Full Gene Sequencing / Deletion/Duplication(Limb girdle muscular dystrophy 2B)	0	0	0	0	0	0	0	0	0	0	0	1	0	1
以下自第151-152項為本年度新增之檢驗項目
151	Noonan spectrum Panel(Cardiofaciocutaneous Syndrome, CFC)	0	0	0	0	0	0	0	0	0	0	0	0	2	2
152	HRAS gene sequencing(Costello syndrome)	0	0	0	0	0	0	0	0	0	0	0	0	1	1
合計	152項	15	23	43	49	62	36	51	39	42	39	17	6	4	426