Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication
Use to detect causal F8 variant in individuals with severe hemophilia A or to determine carrier status for at-risk females with severely affected male relatives. For mild to moderate hemophilia A, Hemophilia A (F8) Sequencing (3004241) is preferred.
Inverse Polymerase Chain Reaction/Massively Parallel Sequencing/Multiplex Ligation-dependent Probe Amplification
If reflexed, add 3-4 weeks.
New York DOH Approval Status
Lavender or Pink (EDTA) or Yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 3 mL)
Serum or plasma; grossly hemolyzed or frozen specimens. Saliva. Buccal brush or swab, FFPE tissue, DNA.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. This test was performed in a CLIA-certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
F8 inversion testing is performed on all specimens. If inversion testing does not explain the clinical scenario, then F8 gene sequencing will be added. If sequencing does not explain the clinical scenario, then deletion/duplication testing will be added. Additional charges apply.
81403; if reflexed to NGS, add 81407; if reflexed to Del/Dup, add 81406
|Component Test Code*||Component Chart Name||LOINC|
|2001616||Family History for Hemophilia A (F8)||8670-2|
|2001617||F8 COMP Specimen||66746-9|
|2001618||Symptoms for Hemophilia A (F8)||75325-1|
|3004236||Hemophilia A (F8) Interpretation||82939-0|
- DNA analysis for F8 deficiency
- DNA analysis for hemophilia A
- factor VIII genetic analysis
- hemophilia A carrier screening
- hemophilia A carrier status
- Hemophilia A molecular cascade
- hemophilia A mutation evaluation
- hemophilia A reflex panel
- severe hemophilia A comprehensive reflex panel