Hemophilia B, F9 Gene, Next-Generation Sequencing, Varies
Use
This test confirms a clinical diagnosis of hemophilia B in male patients by identifying a disease-causing variant in the F9 gene. It determines the causative alteration within the F9 gene for delineating the molecular defect in males diagnosed with hemophilia B. The test is also useful for identifying the causative alteration for prognostic and genetic counseling purposes, assessing hemophilia B carrier status in females with a family history, and prenatal testing if a familial F9 variant is identified.
Special Instructions
The test requires prior identification of a familial alteration for prenatal specimens. Consultation is advised before ordering prenatal testing, and all prenatal specimens must be accompanied by maternal blood for MATCC / Maternal Cell Contamination, Molecular Analysis. The Hemophilia B Patient Information form is required, and informed consent is needed for New York clients.
Limitations
Next-generation sequencing might not detect all genomic variants, and false-negative or false-positive results are possible. Certain gene regions might challenge effective evaluation due to homology or GC content. The test is validated to detect 95% of deletions up to 75 bp and insertions up to 47 bp, but larger deletions or complex rearrangements may be less reliably detected.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 93811-8
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or Yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | preferred |