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
| • | Molecular Genetics - Biochemical Disorders Patient Information Sheet |
| • | Tay-Sachs Disease Carrier Testing Protocol |
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


