Hereditary Blood Disorders
You may also be interested in our brochure MLPA for Hematologic Disorders (link opens in a new window).

Product NameApplicationRegion
P011-VWF mix 1 Von Willebrand disease (vWD) VWF 12p13.31
P012-VWF mix 2 Von Willebrand disease (vWD) VWF 12p13.31
P013-ATRX Alpha-thalassemia X-linked intellectual disability syndrome (ATRX) ATRX Xq21.1
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 16p12.2
P102-HBBCE Beta-thalassemia; Persistence of foetal haemoglobin, hereditary (HPFH); Sickle cell anaemia (SCA); Sickle cell disease (SCD) HBB 11p15.4
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;CO;MA;IL Alpha-thalassemia HBA 16p13.3
P178-F8 Haemophilia A, X-linked F8 Xq28
P202-IKZF1-ERG Acute lymphoblastic leukemia (ALL); Chronic myeloid leukemia (CML); Common variable immunodeficiency (CVID) IKZF1 7p12.2; ERG 21q22.2; CDKN2A 9p21.3; CDKN2B 9p21.3; 14q32
P203-PKLR Pyruvate kinase (PK) deficiency; Non-spherocytic hemolytic anaemia, hereditary PKLR 1q22
P207-F9 factor VII deficiency, hemophilia A, hemophilia B F9 Xq27.1; F8 Xq26; F7 13q34
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 Predisposition to develop cancer, hereditary BRIP1 17q23.2; CHEK1 11q24.2
P243-SERPING1 - F12 Hereditary angioedema (HAE) SERPING1 11q12.1; F12 5q35.3
P257-TERT-DKC1 Dyskeratosis congenita (DC) DKC1 Xq28; TERT 5p15.33; TERC 3q26.2
P260-PALB2-RAD50-RAD51C-RAD51DCE Susceptibility to breast and ovarian cancer; Susceptibility to other cancer types; Fanconi-anemia type N RAD50 5q31.1; PALB2 16p12.1; RAD51D 17q12; RAD51C 17q22
P265-PROC Protein C deficiency (PROC) PROC 2q14.3
P296-aHUS Hemolytic uremic syndrome, atypical (aHUS) CFI 4q25; CD46 1q32.2
P347-Hemochromatosis Hemochromatosis, hereditary (HH) HFE 6p22.2; SLC40A1 2q32.2; TFR2 7q22.1; HFE2 1q21.1; HAMP 19q13.12
P385-DOCK8 Hyper IgE syndrome, autosomal dominant (AD-HIES) DOCK8 9p24.3
P386-DOCK8 STAT3 Hyper IgE syndrome, autosomal dominant (AD-HIES) DOCK8 9p24.3; STAT3 17q21.2
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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