Test Catalog

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

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 genetic 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.

Additional Tests Lists tests that are always performed, at an additional charge, with the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
NAGAJHexosaminidase A and Tot, WBC/AJNo, (Bill Only)Yes

Testing Algorithm Delineates situations 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 Library of PDFs including pertinent information and forms related to the test

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

AJPO: Polymerase chain reaction (PCR) analysis is used to test for mutations associated with 8 disorders prevalent in the Ashkenazi Jewish population.

NAGAJ: Heat Inactivation, Fluorometric, Semiautomated

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

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

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
AJPWO
Niemann-Pick types A and B
Tay-Sachs disease
ASPA
MCOLN1
IKBKAP
HEXA
GBA
FANCC
BLM
SMPD1