Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis (CF)
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Carrier screening in individuals of Ashkenazi Jewish ancestry for Bloom syndrome, Canavan disease, FANCC-related Fanconi anemia, familial dysautonomia, Gaucher disease, mucolipidosis IV, Niemann-Pick disease types A and B, and Tay-Sachs disease
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Panel includes the following disorders Bloom syndrome, Canavan disease, FANCC related Fanconi anemia, familial dysautonomia, Gaucher disease, mucolipidosis IV, Niemann-Pick disease types A and B, and Tay-Sachs disease. Specific detection rates for the Ashkenazi Jewish population are provided. (ACD/yellow-top tube only)
Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)
|Test ID||Reporting Name||Available Separately||Always Performed|
|23425||Hexosaminidase A and Tot, WBC/AJ||No, (Bill Only)||Yes|
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
When this test is ordered, hexosaminidase A and total, white blood cells will always be performed at an additional charge.
See Tay-Sachs Disease Carrier Testing Protocol in Special Instructions
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
AJPWO: Polymerase chain reaction (PCR) analysis is used to test for mutations associated with 8 disorders prevalent in the Ashkenazi Jewish population.
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
23425: Heat Inactivation, Fluorometric, Semiautomated
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Mucolipidosis type IV
Niemann-Pick types A and B