Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication
Also known as: F8-COMP
Use
This test is used to detect causal F8 variants in individuals with severe hemophilia A or to determine carrier status for at-risk females with severely affected male relatives. It aids in diagnosing hemophilia A characterized by deficiency of factor VIII clotting activity, which can cause spontaneous bleeding and other symptoms based on the severity.
Special Instructions
Not provided.
Limitations
A negative result does not exclude a diagnosis or carrier status for hemophilia A. The test only detects variants within the coding regions and intron-exon boundaries of the F8 gene. It cannot detect regulatory region variants or deep intronic variants beyond specific inversions. Rare inversions with different breakpoints may not be detected. Large deletion/duplication breakpoints or single exon variants may not be identified based on rearrangement. Some insertions or deletions may not be detected due to sequencing limitations.
Methodology
NGS
Biomarkers
LOINC Codes
- 66746-9 - Specimen type
- 75325-1 - Symptom
- 8670-2 - Family member diseases Hx
- 82939-0 - Genetic variant details Bld/T
Result Turnaround Time
7-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
3 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens. Saliva. Buccal brush or swab, FFPE tissue, DNA.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
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