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Test ID: HAPB    
Hemophilia A, Molecular Analysis for Inversion, Diagnosis and Carrier Detection

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Secondary ID A test code used for billing and in test definitions created prior to November 2011


NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Useful For Suggests clinical disorders or settings where the test may be helpful

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 IDReporting NameAvailable SeparatelyAlways Performed
FBCFibroblast Culture for Genetic TestYesNo
AFCAmniotic Fluid Culture/Genetic TestYesNo
MCCMaternal Cell Contamination, BYesNo

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

Method Name A short description of the method used to perform the 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

Hemophilia A Mol Anal for Inversion

Aliases Lists additional common names for a test, as an aid in searching

Carrier Detection of Hemophilia A
DNA Analysis for Hemophilia A
Factor VIII Deficiency
Factor VIII Inversion
Hemophilia A, Carrier Detection and Prenatal Diagnosis
Severe Hemophilia A