Test Catalog

Test ID: MPS2Z    
Hunter Syndrome, Full Gene Analysis

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

Confirmation of a diagnosis of mucopolysaccharidosis type II (Hunter syndrome)

 

Carrier testing when there is a family history of mucopolysaccharidosis type II (Hunter syndrome), but disease-causing mutations have not been previously identified

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Testing includes full gene sequencing of the IDS gene.

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.

 

The recommended first-tier test for mucopolysaccharidosis type II is biochemical testing that measures iduronate 2-sulfatase enzyme activity in fibroblasts: IDNS / Iduronate Sulfatase, Fibroblasts. Individuals with decreased or absent enzyme activity are more likely to have a mutation in the IDS gene identifiable by this test.

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

Hunter Syndrome, Full Gene Analysis

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

Hunter
Iduronate 2-sulfatase
Mucopolysaccharidosis
Mucopolysaccharidosis type II
HUNTS
IDS