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