Home Test Search Results PlateletGenex Functional Defect Panel
PlateletGenex Functional Defect Panel


Platelet functional defects have been linked to more than 23% of patients with bleeding of unknown cause, highlighting the need to clinically differentiate platelet, fibrinogen and von Willebrand abnormalities. This panel can confirm the diagnosis of more common platelet aggregation, platelet secretion (ATP release) and platelet signaling defects; it can also diagnose (and subtype) von Willebrand disease, dysfibrinogenemias and rare platelet defects (Glanzmann thrombasthenia, Bernard-Soulier, Wiskott-Aldrich, Hermansky-Pudlak, Scott, MayHegglin syndromes, others).

STAT: < 48 hours (M-F)


Draw Tube: Purple Top

Sample Type: EDTA Whole Blood


Specimen Requirements

Sample Type Volume Required Minimum Volume Stability
PREFERRED EDTA Whole Blood 3mL 1mL Room Temp.: 1 month
Refrigerated: 1 month
Frozen (-20C): 2 weeks
Frozen (-80C): 6 months
ALTERNATIVE Cheek swab 2 swab - Room Temp.: 1 month
Refrigerated: 1 month
REJECTION CRITERIA Sample contamination; sample compromised

General Information

STAT TAT < 48 hours (M-F)
STAT TAT Performance > 90% of results released in 48 hours
ROUTINE TAT < 5 days (M-F)
ALTERNATIVE NAMES Platelet genetics, ITP
DESCRIPTION This panel sequences the exons plus 5pb of the flanking introns from 31 genes associated with defects in platelet function, activation, secretion and binding: ANO6, AP3B1, BLOC1S3, BLOC1S6, DTNBP1, FGA, FGB, FGG, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGAB3, LYST, MYH9, P2RY12, PLA2GA, PLAU, RASGRP2, TBXA2R, TBXAS1, VIPAS39, VPS33B, VWF and WAS. Additionally, several deep intronic and promoter variants known to be associated with platelet function defects are also included. Sanger sequencing may be used to confirm variants as needed.
LIMITATIONS This test will not detect variants located outside of the targeted DNA regions. This test is not optimized to detect chimerism or somatic mosaicism. This test will detect small indels but may miss larger deletions or duplications. Balanced structural variants will not be detected unless specifically targeted by a custom PCR assay.
NORMAL RANGE Interpretation: Negative

Megy K, et al; Subcommittee on Genomics in Thrombosis and Hemostasis. Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH. J Thromb Haemost. 2019 Aug;17(8):1253-1260.

SAMPLE REPORT Upon request

Test Codes

CPT CODE 81404, 81406, 81408, 81479x28
LOINC CODE 100754-1