Haemophilia and Thrombosis Genetics

Friday, 08 January 2021

IMG 9183 Haemo Thrombo Genetics 503X430pxOur Genetics teams are using high-throughput sequencing to combine the testing for rare bleeding, platelet and thrombosis disorders into a single workflow.

The Haemophilia and Thrombosis Genetics team currently offer full gene Sanger sequencing and variant analysis for the F7, F8, F9, F10, F11, SERPINC1 (Antithrombin) and PROC genes. Targeted Sanger sequencing and variant analysis of von Willebrand Factor (VWF) is carried out.

To help inform the understanding of patients’ clinical and laboratory phenotypes, and of their disorder in general, two custom gene panels have been created for sequencing by synthesis on a high-throughput platform – an 87 gene panel for bleeding and platelet disorders, and a 15 gene panel for thrombosis disorders as selected in conjunction with consulting clinicians and Genomics England.

Genetic variants are interpreted and reported in line with ACGS/ACMG guidelines, and reports are issued following discussion and authorisation by Clinical Scientists and Consultant Haematologists.

Bleeding and Platelet Disorders Gene Panel

ABCG5, ABCG8, ACTN1, ADAMTS13, ANKRD26, ANO6, AP3B1, AP3D1, ARPC1B, BLOC1S3, BLOC1S6, CHST14, COL1A1, COL3A1, COL5A1, COL5A2, CYCS, DIAPH1, DTNBP1, ETV6, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FERMT3, FGA, FGB, FGG, FLI1, FLNA, FYB1, GATA1, GFI1B, GGCX, GNE, GP1BA, GP1BB, GP6, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, KDSR, KNG1, LMAN1, LYST, MCFD2, MECOM, MPIG6B, MPL, MYH9, NBEA, NBEAL2, ORAI1, P2RY12, PLA2G4A, PLAU, PTPN11, RASGRP2, RBM8A, RNU4ATAC, RUNX1, SERPINE1, SERPINF2, SLFN14, STIM1, STXBP2, TBXA2R, TBXAS1, THBD, THPO, TUBB1, VIPAS39, VKORC1, VPS33B, VWF, WAS

Thrombosis Gene Panel

ADAMTS13, F2, F5, FGA, FGB, FGG, HRG, PLAT, PLG, PROC, PROS1, SERPINC1, SERPIND1, SERPINE1, THBD