List of diseases covered by Coagulation Disorders NGS panel

Published 13/12/2018

List of diseases covered by
Coagulation Disorders NGS panel

Gene Condition
F2 Hypoprothrombinemia; Thrombophilia due to thrombin defect
F5 Factor V deficiency;
Thrombophilia due to activated protein C resistance
F8 Hemophilia A
F9 Hemophilia B; Thrombophilia, X-linked, due to factor IX defect
F10 Factor X deficiency
F11 Factor XI deficiency
F12 Factor XII deficiency; Angioedema, hereditary, type III
F13A1 Factor XIIIA deficiency
FGA Afibrinogenemia, congenital;
Amyloidosis, familial visceral; Dysfibrinogenemia, congenital
FGB Afibrinogenemia, congenital; Dysfibrinogenemia, congenital
FGG Afibrinogenemia, congenital; Dysfibrinogenemia, congenital
GGCX Pseudoxanthoma elasticum-like disorder
with multiple coagulation factor deficiency;
Vitamin K-dependent clotting factors, combined deficiency of, 1
LMAN1 Combined factor V and VIII deficiency
MCFD2 Factor V and factor VIII, combined deficiency of
SERPINC1 Thrombophilia due to antithrombin III deficiency
VKORC1 Vitamin K-dependent clotting factors, combined deficiency of, 2;
Warfarin resistance
VWF von Willebrand disease, type 1;
von Willebrand disease, types 2A, 2B, 2M, and 2N;
von Willibrand disease, type 3

Coagulation Disorders NGS panel

Published 13/12/2018

Coagulation Disorders NGS panel

Genes: F2, F5, F8, F9, F10, F11, F12, F13A1, FGA, FGB, FGG, GGCX, LMAN1, MCFD2, SERPINC1, VKORC1, VWF

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form