Test Catalog

Test ID: GAUP    
Gaucher Disease, Mutation Analysis, GBA, Varies

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

Confirmation of a suspected clinical diagnosis of Gaucher disease


Carrier testing for individuals of Ashkenazi Jewish ancestry or who have a family history of Gaucher disease


Prenatal diagnosis of Gaucher disease in at-risk pregnancies

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

Mutations tested for include N370S, IVS2(+1)G->A, 84GG, R496H, L444P, delta55bp, V394L, and D409H.

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 (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. For any prenatal specimen that is received, maternal cell contamination studies will be added.


See Newborn Screen Follow-up for Gaucher Disease in Special Instructions.


For more information, see Newborn Screening Act Sheet Gaucher Disease: Decreased Acid Beta-Glucosidase in Special Instructions.

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)

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

Gaucher Disease, Mutation Analysis

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

Beta-glucocerebrosidase deficiency
Gaucher Disease