Ordering Recommendation

Use to identify causal F8 gene intron 22A or intron 1 variant in individuals with established severe hemophilia A and determine carrier status of those with relatives with a known inversion of intron 1 or 22A. The most comprehensive test for individuals with severe hemophilia A is Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication (3004232). For mild to moderate hemophilia A, Hemophilia A (F8) Sequencing (3004241) is recommended.

New York DOH Approval Status

This test is New York state approved.

Submit With Order

Specimen Required

Patient Preparation
Collect

Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B)

Specimen Preparation

Transport 2 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated. Also acceptable: Ambient.

Unacceptable Conditions
Remarks
Stability

Room temperature: 1 week; Refrigerated: 1 month; Frozen: Unacceptable

Methodology

Inverse Polymerase Chain Reaction/Electrophoresis

Performed

Varies

Reported

7-14 days

Reference Interval

Interpretive Data

Refer to report

Compliance Category

Note

Hotline History

N/A

CPT Codes

81403

Components

Component Test Code* Component Chart Name LOINC
2001761 Hemophilia A (F8) Inversions Interp 82343-5
2001762 F8 Inv Specimen 66746-9
* 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

  • Severe Hemophilia A
  • DNA Analysis for Hemophilia A
  • F8
  • Carrier Detection and Prenatal Diagnosis
  • Carrier Detection of Hemophilia A
  • F8 Inversion
  • Factor VIII Deficiency
  • Factor VIII Inversion
  • Hemophilia A (Factor VIII) Inversions
  • Hemophilia A
  • Factor VIII Inversions
Hemophilia A (F8) 2 Inversions