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GTR Home > Tests > Hemophilia Complete Genetic Panel (F8, F9 and VWF gene sequencing F8 inversions assays) (2 Day STAT TAT)


Test order codeHelp: P1226

Test name


Hemophilia Complete Genetic Panel (F8, F9 and VWF gene sequencing F8 inversions assays) (2 Day STAT TAT)

Purpose of the test


This is a clinical test intended for Help: Diagnosis



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How to order


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

Specimen source

Peripheral (whole) blood


Molecular Genetics
ESequence analysis of select exons
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


Not provided

Clinical validity


We sequenced nine positive control samples from donors. Six samples were collected from obligate carriers, potential carriers, or patients diagnosed with HA. Three samples were from VWD patients. The HA patients and carriers were known to have the pathogenic inversion in the F8 gene, which cannot be detected by NGS; thus as expected for these six cases, our panel could not identify any suspicious variants. (The pathogenic inversions can be detected by a separate, specialized PCR assay.) In all three cases of VWD, we identified either pathogenic or suspicious variants, suggesting the clinical specificity of the panel is high. Published literature also support high clinical specificity for these three syndromes. None of the normal samples we sequenced generated positive reports, as expected. Thus, the clinical specificity is >99%.


Test services

  • Custom Sequence Analysis

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.