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GTR Home > Tests > PlateletGenex Functional Defect Panel (31 genes) (2 Day STAT TAT)


Test order codeHelp: P1204

Test name


PlateletGenex Functional Defect Panel (31 genes) (2 Day STAT TAT)

Purpose of the test


This is a clinical test intended for Help: Diagnosis



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Click Indication tab for more information.

How to order


Please visit lab website for details. Inquire about functional confirmation testing.
Order URL Help: https://www.machaondiagnostics.com/test/plateletgenex-functional-defect-panel/

Specimen source

Buccal swab
Peripheral (whole) blood


Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

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Clinical utility


Establish or confirm diagnosis


Clinical validity


We acquired six positive control samples by searching the cell line biorepository at the Coriell Institute for Medical Research. These six samples were collected from patients diagnosed with either Hermansky-Pudlak, Chediak-Higashi, or Bernard-Soulier syndromes. In all six cases, we identified either pathogenic or likely pathogenic variants, suggesting the clinical specificity might be high, at least for these three syndromes. This test covers >97% of exonic regions (plus flanking intronic DNA) for the 31 genes.


Not provided

Test services

  • Custom Sequence Analysis
  • Result interpretation

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