Test Catalog

Test ID: CANP    
Canavan Disease, ASPA Mutation Analysis, Varies

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

Carrier testing for Canavan disease in individuals of Ashkenazi Jewish ancestry


Prenatal diagnosis of Canavan disease in at-risk pregnancies


Confirmation of a suspected clinical diagnosis of Canavan disease in individuals of Ashkenazi Jewish ancestry

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

Variants tested for include E285A, Y231X (C>A), 433(-2)A>G, and A305E.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo
CULAFAmniotic Fluid Culture/Genetic TestYesNo
MATCCMaternal Cell Contamination, BYesNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture will be added at an additional charge. If a chorionic villus specimen (nonconfluent cultured cells) is received, a fibroblast culture will be added at an additional charge. For any prenatal specimen that is received, maternal cell contamination studies will be added.

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

Polymerase Chain Reaction (PCR)/Targeted Sanger Sequencing

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


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

Canavan Disease, Mutation Analysis

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