|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.
|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|