Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication

Casandra

Casandra Test Code AR82736Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3004232CPT Codes 81403, 81406, 81407

Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication

Also known as: F8-COMP

Clinical Use

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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

Patient History Form for Hemophilia A Gene Testing and informed consent for genetic testing (required for NY patients) must be submitted with order. If testing is performed on non-New York specimens, a Non-Permitted Laboratory Request Form is required prior to specimen collection.

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.

Test Details