Factor VIII (Hemophilia A) Genetic Analysis
Also known as: Factor VIII Genetic Sequencing, Factor VIII Mutation Analysis
Use
Diagnostic testing
Special Instructions
For accurate diagnostic testing, ensure specimens are collected per instructions: standard phlebotomy for whole blood; follow kit instructions for oral swab; contact MNG Genetic Services for extracted DNA. Proper specimen handling is crucial to avoid causes of rejection such as hemolysis or freezing.
Limitations
This assay may not detect mosaicism or large chromosomal aberrations that do not affect copy number. It cannot distinguish between type I and type II inversions in intron 22 of the F8 gene. False results may occur due to rare variants, pseudogene interference, mislabeled samples, or erroneous family relationships. The clinical significance of variants may change over time as more information becomes available.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 21672-1
- 21672-1
- 53039-4
- 8251-1
- 11502-2
Result Turnaround Time
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 |
Other tests from different labs that may be relevant