Test Catalog

Test ID: MP3DZ    
Mucopolysaccharidosis IIID, Full Gene Analysis, Varies

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

Identifying mutations within the GNS gene

 

Confirmation of a diagnosis of mucopolysaccharidosis type IIID

 

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

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 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 IIID, Full Gene Analysis

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

MPS 3D
MPS3D
MPS IIID
MPSIIID
GNS
Sanfilippo Syndrome D
Sanfilippo Syndrome Type D
Sanfilippo Type D