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GTR Home > Tests > PlateletGenex Thrombocytopenia Panel (26 genes) (2 Day STAT TAT)


Test order codeHelp: P1225

Test name


PlateletGenex Thrombocytopenia Panel (26 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-thrombocytopenia-genetic-panel/

Specimen source

Buccal swab
Peripheral (whole) blood


Molecular Genetics
ESequence analysis of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

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Click Methodology tab for more information.

Clinical utility


Establish or confirm diagnosis


Clinical validity


Identification of causal mutations have enhanced the diagnosis of inherited thrombocytopenia, however, the clinical sensitivity is still thought to be around 50 %. We sequenced one positive control sample from a patient diagnosed with thrombocytopenia. In this case, we identified a pathogenic variant along with other SNVs, suggesting the clinical specificity of the panel is high. None of the normal samples we sequenced generated positive reports, as expected. Thus, the clinical specificity is >99%.


Not provided

Test services

  • Custom Sequence Analysis
  • Result interpretation

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