| Interpretive Data: |
Background Information for Hemophilia A (F8) 2 Inversions:
Characteristics: Severe deficiency of factor VIII clotting activity leading to spontaneous joint or deep muscle bleeding. Moderate to mild deficiency is associated with prolonged bleeding after tooth extractions, surgery, or injuries and recurrent or delayed wound healing.
Incidence: 1 in 4,000-5,000 live male births worldwide, rare in females.
Inheritance: X-linked recessive. Of simplex cases, 85 percent of mothers are carriers and 10-15 percent of boys have a de novo mutation.
Penetrance: 100 percent in males and 10 percent in females.
Cause: Deleterious F8 gene mutations.
Clinical Sensitivity: 51 percent of mutations causing severe hemophilia A are detected by F8 inversion testing. This assay does not detect F8 mutations associated with mild or moderate hemophilia A in males.
Methodology: Intron 22-A and intron 1 inversions detected by inverse PCR and electrophoresis.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Rare diagnostic errors can occur due to primer site mutations. F8 mutations, other than the F8 intron 22-A and intron 1 inversions, will not be detected.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
Inversion: 83891 Isolation; 83892 x2 digestion; 83914 x2 Extension; 83898 Amplification; 83894 Gel separation; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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Cross References: |
F8 Inversion (Hemophilia A (F8) 2 Inversions)
, Factor VIII Inversion (Hemophilia A (F8) 2 Inversions)
, Hemophilia A (Factor VIII) Inversions (Hemophilia A (F8) 2 Inversions) |
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