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HAPB-M
HEMOPHILIA A, MOLECULAR ANALYSIS FOR INVERSION, DIAGNOSIS AND CARRIER DETECTION

Test Code HAPB-M 
Test HEMOPHILIA A, MOLECULAR ANALYSIS FOR INVERSION, DIAGNOSIS AND CARRIER DETECTION 
Methodology Direct Mutation Analysis by Southern Blot
Inversions within the Factor VIII gene are identified by Southern blot analysis with the use of the DNA probe 482.6 and 2 restriction endonucleases. 
Description Useful for determining carrier status for individuals with a family history of hemophilia A and for prenatal diagnosis.

NOTE: We recommend this test be used first on an affected family member before carrier testing is done on individuals at risk. 

Specimen All specimens should include a "Molecular Genetics Congenital Disorders Request Form" (Supply T245) with information including relevant clinical and family history information. This form is supplied by Mayo Medical Laboratories.

Specimens must arrive within 96 hours of collection.
SUBMIT ONLY 1 OF THE FOLLOWING SPECIMENS:

BLOOD
Draw blood in a lavender-top (EDTA) tube(s) or yellow-top (ACD) tube(s), and send 5.0 mL (minimum: 0.5 mL) of EDTA or ACD whole blood in the original VACUTAINERS®. Invert several times to mix blood. Forward unprocessed whole blood promptly at ambient temperature only.

Prenatal Specimens
All prenatal specimens must be accompanied by a maternal blood specimen.

AMNIOTIC FLUID
Obtain 20 mL (minimum: 10 mL) of amniotic fluid. Transfer the specimen to 2 screw-capped, sterile centrifuge tubes. Send specimen refrigerated. SPECIMEN CANNOT BE FROZEN. A separate culture charge will be assessed under test #80334 "Amniotic Fluid Culture for Genetic Testing" unless a chromosome analysis on the specimen is also being performed at Mayo. Alternatively, we will accept 2 T-25 flasks of confluent cultured cells from another laboratory sent at ambient temperature.

CHORIONIC VILLUS
Obtain 20 mg (minimum 5 mg) of a CVS refrigerated in 15-mL centrifuge tube with transport medium. SPECIMEN CANNOT BE FROZEN. A separate culture charge will be assessed under test #80333 "Fibroblast Culture for Genetic Testing" unless a chromosome analysis on the specimen is also being performed at Mayo. Alternatively, we will accept 2 T-25 flasks of confluent cultured cells from another laboratory sent at ambient temperature. 

Reference Values An interpretive report will be issued which will include a risk analysis (probability of being a carrier). 
Analytic Time 14 Days 
Day(s) Test Set Up Thursday 
CPT Code(s) 81403