Hemophilia A, Molecular Analysis for Inversion, Diagnosis and Carrier Detection
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Identifying the disease-causing mutation in males with severe hemophilia A
Determining hemophilia A-carrier status for individuals with a family history of F8 intron 1 or 22 inversions
Prenatal testing for hemophilia A when there is a high risk of inheriting an F8 intron 1 or 22 inversion and the fetus is male
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Detects the common inversion mutations within the factor VIII gene approximately 47% of affected males with severe hemophilia A have been shown to have an inversion.
We recommend this test be used first on an affected family member before carrier testing is done for at risk individuals.
Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)
|Test ID||Reporting Name||Available Separately||Always Performed|
|FBC||Fibroblast Culture for Genetic Test||Yes||No|
|AFC||Amniotic Fluid Culture/Genetic Test||Yes||No|
|MCC||Maternal Cell Contamination, B||Yes||No|
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
For prenatal specimens only: If amniotic fluid (non-confluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (non-confluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.
The following algorithms are available in Special Instructions:
-Hemophilia Carrier Testing Algorithm
-Hemophilia Testing Algorithm
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Intronic inversions within the factor VIII gene are identified by Southern blot analysis.
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
DNA Analysis for Hemophilia A
Factor VIII Deficiency
Factor VIII Inversion
Hemophilia A, Carrier Detection and Prenatal Diagnosis
Severe Hemophilia A