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Unit Code 81780:
Canavan Disease, Mutation Analysis, ASPA

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

Carrier testing for individuals who have a family history of Canavan

disease

 

Prenatal diagnosis in at-risk pregnancies

 

Confirmation of clinical diagnosis of Canavan disease

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

Mutations tested for include E285A, Y231X (C->A, C->T),

433(-2)A->G, and A305E.

Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

 Unit Code  Reporting Name  Available Separately  Always Performed 
80333 Fibroblast Culture for Genetic Test Yes No
80334 Amniotic Fluid Culture/Genetic Test Yes No

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

Note:  This testing algorithm only applies to prenatal

         testing.

If amniotic fluid (non-confluent cultured cells) is received, amniotic

fluid culture/genetic test will be added and charged separately. If

chorionic villus specimen (non-confluent cultured cells) is received,

fibroblast culture for genetic test will be added and charged

separately.

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 
• Informed Consent for DNA Testing 

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

81780: Polymerase Chain Reaction (PCR) with Luminex
Technology
(PCR is utilized pursuant to a license agreement with
Roche Molecular Systems, Inc.)
80333, 80334: Cell Culture

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

Canavan Disease, Mutation Analysis

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

CANW

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

Soft-CANW