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PlateletGenex Thrombocytopenia Genetic Panel


Thrombocytopenia can range from severe to mild or asymptomatic. Thrombocytopenia can be acquired or inherited and genetic results can help differentiate between the two. The clinical significance of bleeding symptoms is difficult to assess, as concurrent bleeding disorders are commonly seen in the same patient. Gene sequencing of the thrombocytopenia-associated and von Willebrand factor genes can provide valuable understanding of the pathophysiology of bleeding diathesis.

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 quantitative defect genetics, platelet genetics, ITP
DESCRIPTION This panel sequences the exons plus 5bp of the flanking introns from 26 genes associated with inherited thrombocytopenia: ACTN1, ADAMTS13, ANKRD26, CD36, CYCS, ETV6, FERMT3, FLI1, FLNA, GATA1, GFI1B, GNE, HOXA11, HRG, MPL, NBEA, NBEAL2, ORAI1, RBM8A, RUNX1, STIM1, STXBP2, THPO, TUBB1, 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 81334, 81403, 81406x2, 81408, 81479x21
LOINC CODE 100754-1