Hemophilia A (Factor VIII) Inversions

Test Code

CPT Codes

Preferred Specimen
4 mL whole blood collected in an EDTA (lavender-top) tube

Minimum Volume
2 mL

Other Acceptable Specimens
Whole blood collected in: ACD solution A (yellow-top) tube, ACD solution B (yellow-top) tube, sodium heparin (green-top) tube or lithium heparin (green-top) tube • Cultured cells from amniotic fluid or cultured cells from CVS collected in (2) T25 flask

Whole blood (preferred): Normal phlebotomy procedure. For prenatal diagnosis, please call the laboratory.

Cultured cells (acceptable); either amniocyte culture or chorionic villus (CVS) biopsy culture: Ship two 100% confluent T-25 flasks filled with growth media. Specimen stability is crucial. Store and ship the flasks room temperature immediately. Do not refrigerate or freeze. Call lab for additional requirements for prenatal testing. Indicate source of cells: Amniotic Fluid (AF) or Chorionic Villus Sample (CVS).

Please order test code 10262X, Maternal Cell Contamination (MCC) Studies with this test. A separate tube of maternal blood (EDTA) must be drawn in order to rule out maternal contamination of the fetal sample.

Transport Temperature
Room temperature

Specimen Stability
Room temperature: 8 days
Refrigerated: 8 days
Frozen: 30 days

Capillary Electrophoresis • Inverse Polymerase Chain Reaction

FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule
Set up: Tues; Report available: 8 days

Reference Range
See Laboratory Report

Clinical Significance
This assay detects the recurring intron 1 and intron 22 inversions in the F8 gene that account for nearly half of all severe hemophilia A cases. The assay is useful for identifying the disease-causing mutation in males with severe hemophilia A, or for determining the carrier status in females with a family history of F8 intron inversions.

Performing Laboratory
Quest Diagnostics Nichols Inst
33608 Ortega Highway
San Juan Capistrano, CA 92690-6130

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.