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Unit Code 86329:
Ashkenazi Jewish Mutation Analysis Panel With Cystic Fibrosis (CF)

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

Identifying carriers of Gaucher disease, cystic fibrosis, Tay-Sachs

disease, familial dysautonomia, Canavan disease, mucolipidosis IV,

Niemann-Pick disease type A and B, FANCC related Fanconi anemia,

and Bloom syndrome.

 

Risk refinement via carrier screening for individuals of Ashkenazi Jewish

Ancestry.

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

Panel includes the disorders and mutations listed in Table 1;

detection rates specific for the Ashkenazi Jewish (AJ) population

are also provided. (ACD/yellow-top tube only)

Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)

 Unit Code  Reporting Name  Available Separately  Always Performed 
 23425  Hexosaminidase A and Tot, WBC/AJ Yes (order #8775)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.

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

86329: Polymerase Chain Reaction (PCR) with Luminex
Technology
(PCR is utilized pursuant to a license agreement with
Roche Molecular Systems, Inc.)
23425: Heat Inactivation, Fluorometric, Semiautomated
This assay tests for specific mutations seen in the
following diseases; Gaucher, cyctic fibrosis, Tay Sachs,
familial dysautonomia, Canavan, mucolipidosis IV Nieman-
Pick types A and B, Fanconi anemia, and Bloom syndrome.

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Ashkenazi Jewish Panel with CF

Ordering Mnemonic An alternate Mayo code (to the Unit Code) for a test

AJP

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

AJ Panel

Jewish Panel

Soft-AJP