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


Test order codeHelp: P3389

Test name


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

Specimen source

Buccal swab
Peripheral (whole) blood


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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Click Methodology tab for more information.

Clinical utility


Establish or confirm diagnosis

Clinical validity


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.

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

Test services

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

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