Test Catalog

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Test ID: MP3CZ    
Mucopolysaccharidosis IIIC, Full Gene Analysis

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

Identifying mutations within the HGSNAT gene

 

Confirmation of a diagnosis of mucopolysaccharidosis type IIIC

 

Carrier testing, when there is a family history of mucopolysaccharidosis type IIIC, but disease-causing mutations have not been previously identified

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

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

If skin biopsy is received, fibroblast culture for genetic test will be added and charged separately.

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

Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing

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

Yes

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

MPS IIIC, Full Gene Analysis

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

MPS 3C
MPS IIIC
MPS3C
MPSIIIC
HGSNAT
Sanfilippo Syndrome C
Sanfilippo Syndrome Type C
Sanfilippo Type C