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Test ID: MP3AS    
Mucopolysaccharidosis IIIA, Full Gene Analysis

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

Conditional

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 test or proper submission of the test request

Testing includes full gene sequencing of the SGSH gene.

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)

Test IDReporting NameAvailable SeparatelyAlways Performed
FBCFibroblast Culture for Genetic TestYesNo

Testing Algorithm Delineates situation(s) 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 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

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

Polymerase Chain Reaction (PCR) Amplification/DNA sequencing are utilized to test for the presence of a mutation in the SGSH gene.
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name A shorter/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
MPS 3A
SGSH
Sanfilippo Syndrome A
Sanfilippo Syndrome Type A
Sanfilippo Type A
Sulfamidase Deficiency