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 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
CULFBFibroblast 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
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

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/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