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.

Specimen Required

Patient Preparation

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

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


Inverse Polymerase Chain Reaction/Electrophoresis




7-14 days

Reference Interval

Interpretive Data

Refer to report

Compliance Category

Laboratory Developed Test (LDT)


Hotline History


CPT Codes



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.


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