SFPAN - Overview: Mucopolysaccharidosis III, Multi-Gene Panel

Test Catalog

Test Name

Test ID: SFPAN    
Mucopolysaccharidosis III, Multi-Gene Panel

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

Identifying mutations within the SGSH, NAGLU, HGSNAT, and GNS genes

 

Confirmation of a diagnosis of mucopolysaccharidosis type III, also known as Sanfilippo syndrome

Highlights

Testing can be used to confirm a diagnosis of mucopolysaccharidosis type III, also known as Sanfilippo syndrome

 

Testing includes sequencing of the SGSH, NAGLU, HGSNAT, and GNS genes.

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.

Yes

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

MPS III, Multi-Gene Panel

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

SGSH
NAGLU
HGSNAT
GNS
Sanfilippo