Hemophilia B via the F9 Gene
Use
This test is designed for males with features indicative of Hemophilia B or females with clinical or laboratory findings suggestive of Hemophilia B, or those with a family history of the disorder. Hemophilia B is an X-linked recessive disorder characterized by deficiency of factor IX, resulting in bleeding diathesis. Genetic testing can confirm the diagnosis and assist in managing patients’ therapeutic needs.
Special Instructions
Consult with a healthcare provider to determine the most appropriate test option. Testing can be ordered online through myPrevent or using the Test Requisition Form. STAT testing is available and will be surcharged if tests are delivered beyond 16 days. Testing options include Exome-Wide CNV analysis at an additional cost.
Limitations
While the test is comprehensive, there can be limitations in detecting all variations contributing to Hemophilia B, especially large genomic deletions and duplications. Moreover, genetic variants of uncertain significance may pose challenges in clinical interpretation. NGS with CNV does not detect all types of genetic variation, and the clinical significance of detected variations should be confirmed through clinical correlation.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided