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Test Catalog

Test ID: AJPWO    
Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis (CF)

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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

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 IDReporting NameAvailable SeparatelyAlways Performed
23425Hexosaminidase A and Tot, WBC/AJNo, (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

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

Ashkenazi Jewish Panel Without CF

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

AJ Panel
Bloom syndrome
Canavan disease
Familial dysautonomia
Fanconi anemia
Gaucher disease
Jewish Panel
Mucolipidosis type IV
Niemann-Pick types A and B
Tay-Sachs disease