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Test ID: SFPAN    
Mucopolysaccharidosis III, Multi-Gene Panel, Varies

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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.

 

See Lysosomal Storage Disorders Diagnostic Algorithm, Part 1 in Special Instructions.

Special Instructions Library of PDFs including pertinent information and forms related to the test

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 III, Multi-Gene Panel

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

SGSH
NAGLU
HGSNAT
GNS
Sanfilippo