Genetic Testing

Group

Diagnosis

Gene

Exon and

Intron

Sequencing

PCR and Run Gel

Total price

Code

Price

Code

Price

Anemia

Anemia (IRIDA)

TMPRSS6 (Ex.7,17)

2

11774

3,500

11798

2,400

5,900

TMPRSS6

18

11776

16,700

11800

3,500

20,200

TINF2 (Ex.6)

1

11774

3,500

11798

2,400

5,900

TERT (Ex.2)

1

11774

3,500

11798

2,400

5,900

Dyskeratosis congenita (DC)

DKC1

15

11776

16,700

11800

3,500

20,200

Erythroid transcription
factor (Kruppel-like factor)

KLF1

4

11774

3,500

11798

2,400

5,900

Fanconi Anemia

FANCA (Ex.41/42)

2

11774

3,500

11798

2,400

5,900

Hereditary Hemochromatosis

HFE1

4

11774

3,500

11798

2,400

5,900

HJV (HFE 2A)

5

11774

3,500

11798

2,400

5,900

HAMP (HFE 2B)

2

11774

3,500

11798

2,400

5,900

Lymphoproliferative disorder

FAS/APO-1

8

11775

5,700

11799

2,400

8,100

Pyruvate Kinase deficiency

PKLR (R-type)

8

11775

5,700

11799

2,400

8,100

Alpha-Thalassemia

Alpha-globin

4

11774

3,500

11798

2,400

5,900

Alpha-globin gene triplication (-3.7)

11798

2,400

2,400

Beta-Thalassemia

Beta-globin

2

11774

3,500

11798

2,400

5,900

RBC membrane/enzyme defect

SPTB (Ex.29/30) by Sequencing

11774

3,500

11798

2,400

5,900

SPTB29/30 (common) by HRM

11974

2,000

2,000

SLC4A1 (Ex.10)

1

11774

3,500

11798

2,400

5,900

Bleeding

Afibrinogenemia

FGA

6

11775

5,700

11799

2,400

8,100

Prothrombin

FII

12

11776

16,700

11800

3,500

20,200

Factor V deficiency

FV

31

11776

11774

20,200

11800

11798

5,900

26,100

Factor VII deficiency

FVII

9

11775

5,700

11799

2,400

8,100

Hemophilia A

FVIII gene

35

11776

11774

20,200

11800

11798

5,900

26,100

Inversion Intron22

07571

3,000

3,000

Hemophilia B

FIX

9

11775

5,700

11799

2,400

8,100

Factor X deficiency

FX

8

11775

5,700

11799

2,400

8,100

Factor XIII deficiency

FXIII-A

14

11776

16,700

11800

3,500

20,200

MYH9 disorder

MYH9 (Ex.1,11,16,20,26,27/28,30,38/39,40)

9

11775

5,700

11799

2,400

8,100

Glanzmann Thrombasthenia

ITGA2B, ITGB3

35

11776

11774

20,200

11800

11798

5,900

26,100

Congenital Amegakaryocytic thrombocytopenia

c-mpl (MPL)

8

11775

5,700

11799

2,400

8,100

Vit.K dependent carboxylase

GGCX

15

11776

16,700

11800

3,500

20,200

Von Willebrand disease

vWF type2A (Ex.22,25-27,28)

8

11775

5,700

11799

2,400

8,100

vWF type2B (Ex.28)

4

11774

3,500

11798

2,400

5,900

vWF type2N (Ex.17,18-20,24-25)

6

11775

5,700

11799

2,400

8,100

vWF type2M (Ex.28,29-32)

8

11775

5,700

11799

2,400

8,100

vWF (type 1 and 3)

55

11776

(x2)

16,700

(x2)

11800

(x2)

3,500

(x2)

40,400

vWF (Ex.28)

4

11774

3,500

11798

2,400

5,900

ADP receptor

P2RY1, P2RY12

2

11775

5,700

11799

2,400

8,100

Warfarin Metabolism

VKORC1

3

11774

3,500

11798

2,400

5,900

CYP2C9 (Ex.3,7)

2

11774

3,500

11798

2,400

5,900

Bernard Soulier syndrome

GPIbα

5

11774

3,500

11798

2,400

5,900

GPIX

2

11774

3,500

11798

2,400

5,900

GPIbβ

3

11774

3,500

11798

2,400

5,900

Thrombosis

Antithrombin III

ATIII (SERPINC1)

7

11775

5,700

11799

2,400

8,100

Protein C

PROC

9

11775

5,700

11799

2,400

8,100

R189W

R189W polymorphism by HRM

11975

1,900

1,900

Protein S

PROS1

14

11776

16,700

11800

3,500

20,200

Homocystinuria

CBS

16

11776

16,000

11800

3,500

20,200

Neutropenia

Neutropenia

HAX1

5

11774

3,500

11798

2,400

5,900

ELA2 or ELANE

5

11774

3,500

11798

2,400

5,900

GFI1 (Ex.7)

1

11774

3,500

11798

2,400

5,900

CSFR3 (Ex.14,15,16,17)

4

11774

3,500

11798

2,400

5,900

CXCR2

2

11774

3,500

11798

2,400

5,900

WASP

8

11775

5,700

11799

2,400

8,100