PlateletGenex Functional Defect Panel

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Justification

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)

NGS

Draw Tube: Purple Top

Sample Type: EDTA Whole Blood

DRAW KITS AVAILABLE

Specimen Requirements

	Sample Type	Volume Required	Minimum Volume	Stability
PREFERRED	EDTA Whole Blood	3mL	1mL	Room Temp.: 1 month Refrigerated: 1 month
ALTERNATIVE	Cheek swab	2 swab	-	Room Temp.: 1 month Refrigerated: 1 month

REJECTION CRITERIA	Sample contamination; sample compromised
SPECIAL INSTRUCTIONS	-

General Information

METHODOLOGY	NGS
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
ASSOCIATED TESTING	-
REFERENCES	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
NEW YORK STATE APPROVED	No

Test Codes

ORDER CODE	P1204
CPT CODE	81404, 81406, 81408, 81479x28
LOINC CODE	100754-1