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

Overview

Test order codeHelp: P1226

Test name

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

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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How to order

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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

Methodology

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Molecular Genetics
ESequence analysis of select exons
PCR
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

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Not provided

Clinical validity

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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%.

Citations

Test services

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  • 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.