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罕見疾病

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基因數

自費價格

時效

報告範例

1

Acute intermittent porphyria (AIP) HMBS gene screening

1

11200

4

 

2

C9orf72 hexanucleotides repeat screening test

1

2500

2

 

3

CMT1A/HNPP STR SCREENING

1

3500

1

 

4

DOCK8 gene detection for Congenital hyper IgE syndrome

1

10000

4

 

5

DOPA-RESPONSIVE DYSTONIA (GCH1)

1

8500

4

 

6

Dystonia DYT1 exon 1-4

1

5500

4

 

7

Dystonia DYT1 exon 5

1

2500

4

 

8

HUNTINGTON Disease STR screening

1

2500

2

 

9

Myoclonus-Dystonia;SGCE exon 4,5,6,7,12 screening

1

7000

3

 

10

NOONAN SYNDROME (PTPN11 Exon 3,4,7,8,13)

1

6500

4

 

11

OPMD Gene Screening

1

4000

2

 

12

SCA1,2,3,6,7,DRPLA STR screening

1

6000

2

 

13

SIALIDOSIS (NEU1 EXON1,2,4,5,6)

1

6500

4

 

14

SIALIDOSIS (NEU1 EXON3)

1

2500

2

 

15

single SCA type STR screening

1

2500

2

 

16

Achondroplasia mutation detection

1

1000

3

 

17

DNA screening for mitochondrial diseases

1

4200

4

 

18

FGFR2 gene detection

1

2000

3

 

19

FOXL2 gene detection

1

2400

3

 

20

Gilbert syndrom (ugTIA І promoter region ) gene detection

1

2200

3

 

21

GLA gene detection

1

9000

4

 

22

GSD Ia gene detection

1

4500

3

 

23

MLL2 gene detection (for Kabuki syndrome)

1

22000

8

 

24

RS1 gene detection

1

9000

4

 

25

RUNX2 gene detection (for CCD)

1

6500

4

 

26

SRY gene detection

1

900

3

 

27

Epilepsy related gene screening Panel

85

36000

30