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GTR Home > Tests > Factor IX (F9) Gene Sequencing with duplication/deletion (NGS, MLPA) (2 Day STAT TAT)

Overview

Test order codeHelp: P3389

Test name

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Factor IX (F9) Gene Sequencing with duplication/deletion (NGS, MLPA) (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/factor-ix-9-gene-sequencing-assay/

Specimen source

Buccal swab
Peripheral (whole) blood

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
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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Establish or confirm diagnosis

Clinical validity

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In Hemophilia B, the majority of cases are cause by single nucleotide variations, short insertions, or short deletions in the F9 gene. SNVs and short indels in the F9 gene are detected by this NGS panel. Approximately 10% of severe Hemophilia B cases are caused by structural variants in F9 (Johnsen et al. 2017), such as those detected by MLPA.

Citations
  • Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative. - PubMed ID: 29296726

Test services

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  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis
  • Result interpretation

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.