Ordering Recommendation

Use to identify causal F8 variant in individuals with mild to moderate hemophilia A or to determine carrier status for those with a family history of mild to moderate hemophilia A. For severe hemophilia A, Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication (3004232) is recommended.

Mnemonic

F8 NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender or Pink (EDTA) or Yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 3 mL)

Storage/Transport Temperature

Refrigerated

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva; buccal brush or swab; FFPE tissue

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report

Compliance Category

Laboratory Developed Test (LDT)

Note

Gene tested:  F8

Hotline History

N/A

CPT Codes

81407

Components

Component Test Code* Component Chart Name LOINC
3004242 Hemophilia A (F8) Specimen 66746-9
3004243 Hemophilia A (F8) Interp 94234-2
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • F8 deficiency sequencing
Hemophilia A (F8) Sequencing