Congenital disorders of platelet function and thrombocytopenia
Genes Tested 90 Genes
- ABCG5
- ABCG8
- ACTB
- ACTN1
- ADAMTS13
- ANKRD26
- ANO6
- AP3B1
- AP3D1
- ARHGEF12
- BLOC1S3
- BLOC1S6
- CD36
- DTNBP1
- ETV6
- FLI1
- FYB1
- FYN
- GATA1
- GFI1B
- GP1BA
- GP1BB
- GP6
- GP9
- HOOK3
- HPS1
- HPS3
- HPS4
- HPS5
- HPS6
- ITGA2B
- ITGB3
- LYN
- LYST
- MASTL
- MPL
- MYH9
- NBEAL2
- NHERF4
- P2RY12
- PIK3C2A
- PIK3C2B
- PIK3C2G
- PIK3C3
- PIK3CA
- PIK3CB
- PIK3CD
- PIK3CG
- PIK3R1
- PIK3R2
- PIK3R3
- PIK3R4
- PIK3R5
- PLA2G4C
- PLAU
- PLCB3
- PRKACG
- PRKD1
- PTGER3
- PTGIR
- PTGS1
- PTPRC
- RAB27A
- RBM8A
- RGS19
- RUNX1
- S1PR4
- SCFD1
- SNAP23
- SRC
- STX11
- STX2
- STX7
- STXBP1
- STXBP2
- STXBP4
- STXBP5
- STXBP5L
- SYTL3
- TBXA2R
- TBXAS1
- TLR2
- UNC13A
- UNC13D
- VAMP8
- VAV1
- VAV2
- VPS41
- VPS4B
- WAS
For the following gene, a dosage analysis is also included.
Test Information
Test Code |
722.03 |
Genes Tested |
90 Genes |
Method(s) |
Next Generation Sequencing (NGS) |
Sample Requirements |
2-4 ml EDTA blood Please click here for more detailed information |
Turnaround Time |
3-6 weeks |