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Bleeding and Platelet Gene Panel

Requires patient informed consent

Sample Reqs

A A

Turnaround

12 weeks

Special instructions

Contact lab



Sample type guide

A

Lavender Vacutainer, EDTA anticoagulant, 4ml/10ml(10ml EDTA tubes are used for specific PCR assays)

Test details

This custom gene panel for bleeding and platelet disorders can be used to help inform the understanding of patients’ clinical and laboratory phenotypes, and of their disorder in general. The 88 genes in the panel have been 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.

 

ABCG5, ABCG8, ACTB, ACTN1, ANKRD26, ANO6, AP3B1, AP3D1, ARPC1B, BLOC1S3, BLOC1S6, CDC42, CHST14, COL3A1, CYCS, DIAPH1, DTNBP1, ENG, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FERMT3, FGA, FGB, FGG, FLI1, FLNA, FYB1, GATA1, GBA, GFI1B, GGCX, GNE, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, KDSR, KLKB1, KNG1, LMAN1, LYST, MCFD2, MECOM, MPIG6B, MPL, MYH9, NBEAL2, P2RY12, PLA2G4A, PLAU, PTGS1, RASGRP2, RBM8A, RUNX1, SERPINE1, SERPINF2, SLFN14, SRC, STIM1, STXBP2, TBXA2R, TBXAS1, THBD, THPO, TNXB, TPM4, TUBB1, VIPAS39, VKORC1, VPS33B, VWF, WAS
Bleeding and Platelet Disorders Gene Panel

 

Additional information

Last-updated: 13/03/23

 

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