Comprehensive Platelet Disorder Panel

Requisition Form: Requisition Form

ABCG5, ABCG8, aCGH, ACTB, ACTN1, ANKRD26, ANO6, AP3B1, AP3D1, ARPC1B, BLOC1S3, BLOC1S6, CDC42, CNV, CYCS, del, deletion, DIAPH1, DTNBP1, duplication, ETV6, FERMT3, FLI1, FLNA, FYB1, GATA1, GFI1B, GNE, GP1BA, GP1BB, GP6, GP9, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, KDSR, LYST, MECOM, MPIG6B, MPL, MYH9, NBEA, NBEAL2, P2RY12, PLA2G4A, PLAU, PRKACG, RASGRP2, RBM8A, RNU4ATAC, RUNX1, SLFN14, SRC, STIM1, STXBP2, TBXA2R, TBXAS1, THPO, TUBB1, VIPAS39, VPS33B, WAS, WIPF1

Genetic Diagnostics

This panel is designed for the detection of germline variants in 63 genes known to cause platelet function disorders and/or inherited thrombocytopenia. It can be ordered as: Next Generation Sequencing (NGS) only; NGS with reflex to Array Comparative Genomic Hybridization (aCGH); NGS with concurrent aCGH (both testing methodologies performed simultaneously); aCGH only

comp_platelet_disorder_td.pdf

EDTA Whole Blood, EDTA Bone Marrow, DNA, Buccal Swabs, Amniotic Fluid, Cultured Amniocytes, Direct or Cultured CVS, ACDA Whole Blood, ACDB Whole Blood, Na Heparin Whole Blood

Room Temperature or Refrigerated

3-5 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)

Fetal: Call Laboratory; Parental/Patient: 2 mL EDTA whole blood

0274U NGS; 81479 aCGH

NGS: Capture hybridization and Next Generation Sequencing with supplementary PCR and bi-directional Sanger sequencing for quality and coverage; aCGH: CNV analysis of specific genes by high density gene-focused array Comparative Genomic Hybridization

"NGS only, aCGH only, or NGS and aCGH concurrently: 21 days NGS reflex to aCGH: 21 days (if NGS only, aCGH not needed) or 42 days (with reflex to aCGH)"

Approved

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