Product Name

Application

Region

P011-VWF mix 1

Von Willebrand Disease (vWD)

vWF 12p13

P012-VWF mix 2

Von Willebrand Disease (vWD)

vWF 12p13

P013-ATRX

Alpha-Thalassemia/Mental Retardation

ATRX ; Xq13

P031-FANCA mix 1

Fanconi Anemia (FA)

FANCA 16q24.3

P032-FANCA mix 2

Fanconi Anemia (FA)

FANCA 16q24.3

P057-FANCD2-PALB2

Fanconi anemia (FA)

FANCD2. 3p25.3, PALB2 16p12

P102-HBB

Thalassemia, beta-zero

HBB 11p15.5

P112-PROS1

PROS1 deficiency

PROS1 3q11.2

P140-HBA CE

Thalassemias, Alpha

HBA 16p

P178-F8

Haemophilia A, x-linked

F8 gene, Xq28

P203-PKLR

Haemolytic Anaemia, hereditary non-spherocytic

PKLR 1q22

P207-F9

Factor IX deficiency, Christmas disease

F9 Xq27.1

P212-DBA

Diamond-Blackfan anemia (DBA)

RPL11, RPL5, RPL35A, RPS26, RPS17 and RPS19

P227-SerpinC1

Antithrombin (III) deficiency

SerpinC1 1q25.1

P236-ARMD mix-1

(basic research)

Age-related macular degeneration (ARMD)

CFH, CFHR3, CFHR1, CFHR2, 1q23

P240-BRIP1/CHEK1

Hereditary predisposition to Cancer

BRIP1 17q22, CHEK1 11q22

P257-TERT-DKC1

Dyskeratosis congenita (DC)

DKC1 Xq28

P260-PALB2-RAD50-RAD51C-RAD51D

Fanconi Anemia

5q31, 16p12, 17q12, 17q22

P265-PROC

Protein C deficiency (PROC)

PROC 2q14.3

P296-aHUS

Hemolytic uremic syndrome, atypical (aHUS)

CFI 4q25

P432-MYH9

Macrothrombocytopenia

22q12.3

P440-F10 + F11

Factor X deficiency; Rosenthal syndrome

4q35.2 & 13q34

P469-F5

Factor V deficiency

F5 1q24.2