Factor IX (Hemophilia B) Genetic Analysis
Also known as: Christmas Factor disease, Factor IX Genetic Sequencing, Factor IX Mutation Analysis
Use
Diagnostic testing
Special Instructions
This test requires whole blood, oral swab, or extracted DNA specimens. Whole blood should be collected in a lavender-top (EDTA) tube, while oral swabs should follow the specific kit instructions. For extracted DNA, contact MNG Genetic Services at 844-664-8378. Specimens should be maintained at room temperature or refrigerated but must not be frozen.
Limitations
The assay does not consistently detect mosaicism or rule out large chromosomal aberrations, including rearrangements and inversions that do not change copy number. The test does not detect repeat expansions and may have false positives or negatives due to various factors such as rare genetic variants, pseudogene interference, or mislabeled samples. Its interpretation can be limited by the quality of clinical information provided with the sample, and results are subject to change as more genetic data becomes available.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 81813-8
- 81813-8
- 50397-9
- 8251-1
- 80563-0
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
2 mL
Container
lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |