MP3AZ - Overview: Mucopolysaccharidosis IIIA, Full Gene Analysis

Test Catalog

Test Name

Test ID: MP3AZ    
Mucopolysaccharidosis IIIA, Full Gene Analysis

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

Identifying mutations within the SGSH gene


Confirmation of a diagnosis of mucopolysaccharidosis type IIIA


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

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

Testing includes full gene sequencing of the SGSH gene.

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.

Special Instructions and Forms Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test

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

Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing

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


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

MPS IIIA, Full Gene Analysis

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

Heparan N-sulfatase
Sanfilippo Syndrome A
Sanfilippo Syndrome Type A
Sanfilippo Type A
Sulfamidase Deficiency