Also Known as
ACTN1, ANKRD26, ANO6, AP3B1, BLOC1S3, BLOC1S6, CYCS, DTNBP1, ETV6, FERMT3, FLI1, GATA1, GFI1B, GP1BA, GP1BB, GP6, GP9, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, LYST, MPL, MYH9, NBEAL2, P2RY12, PLA2G4A, PRKACG, RASGRP2, RBM8A, RUNX1, STIM1, STXBP2, TBXA2R, TUBB1, VIPAS39, VPS33B, WAS, WIPF1
Test Information
This genetic panel is optimized for the detection of germline variants in 43 genes known to cause platelet function disorders and/or inherited thrombocytopenia.
Additional Test Information
Sample Requirements
Amniotic Fluid, Buccal Swabs, Cultured Amniocytes, CVS, DNA, EDTA Bone Marrow, EDTA Whole Blood
Requested Volume
2-5 mL EDTA Whole Blood or Bone Marrow (lavender top), 3-4 Buccal Swabs, 1 ug DNA at 50 ng/uL, 7-15 mL Amniotic fluid, 5-10 mg CVS, 2-T25 flasks cultured amniocytes or CVS (2x10^6 minimum)
Minimum/Pediatric Volume
Fetal: Call Laboratory; Parental/Patient: 2 mL
Method
Capture hybridization and Next Generation Sequencing (miSeq) with supplementary Sanger for quality and coverage
Test Schedule
Testing is performed 2x per week