Hereditary Blood Disorders
Product NameApplicationRegion
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
P093-HHT/PPH1 Hemorrhagic telangiectasia, hereditary (HHT), Primary pulmonary hypertension (PPH1) ENG 9q34.11, ACVRL1 12q13.3, BMPR2 2q33.1-2
P102-HBB Thalassemia, beta-zero HBB 11p15.5
P110-FCGR mix 1basic research FCGR genes 1q23.3 FCGR genes 1q23.3
P111-FCGR mix 2basic research FCGR genes 1q23.3 FCGR genes 1q23.3
P112-PROS1 PROS1 deficiency PROS1 3q11.2
P113-FANCB Fanconi anemia complementation group B FANCB Xp22
P140-HBACE 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
P210-BTK Agammaglobulinemia BTK Xq21.3-q22
P212-DBA Diamond-Blackfan anemia (DBA) RPL11, RPL5, RPL35A, RPS26, RPS17 and RPS19
P227-SerpinC1 Antithrombin (III) deficiency SerpinC1 1q25.1
P236-ARMD mix-1basic research Age-related macular degeneration (ARMD) CFH, CFHR3, CFHR1, CFHR2, 1q23
P240-BRIP1/CHEK1 Hereditary predisposition to Cancer BRIP1 17q22, CHEK1 11q22
P243-SERPING1 - F12 Hereditary angioedema (HAE) SERPING1 11q12.1; F12 5q35.3
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
P347-Hemochromatosis Hereditary hemochromatosis (HH) HFE, SLC40A1, TFR2, HFE2, HAMP
P385-DOCK8 HIES 9p24.3
P386-DOCK8 STAT3 HIES 17q21.2, 9p24.3
P432-MYH9 Macrothrombocytopenia 22q12.3
P437-Familial MDS-AML Familial MDS-AML RUNX1, CEBPA, GATA2, TERT, TERC
P440-F10 + F11 Factor X deficiency; Rosenthal syndrome 4q35.2 & 13q34
P469-F5 Factor V deficiency F5 1q24.2
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