Test ID: AJPWO
Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis (CF)
Secondary ID
A test code used for billing and in test definitions created prior to November 2011
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 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
Method Name
A short description of the method used to perform the test
AJPWO/88887: 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
Aliases
Lists additional common names for a test, as an aid in searching
Bloom syndrome
Canavan disease
Familial dysautonomia
Fanconi anemia
Gaucher disease
Jewish Panel
Mucolipidosis type IV
Niemann-Pick types A and B
Tay-Sachs disease


