Bleeding and Platelet Gene Panel
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Requires patient informed consent
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 |
|---|
Code
R90U
Sample Reqs
A A [9]
Turnaround
12 weeks
Special instructions
[9] Clinical history must be provided.
Sample type guide
A
Lavender Vacutainer, EDTA anticoagulant, 4ml/6ml (6ml EDTA tubes are used for specific PCR assays)
Additional information
Updated Wednesday, 06 December 2023