Interpretive Handbook

Test 61496 :
Hunter Syndrome, Known Mutation

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Mucopolysaccharidosis type II (MPS-II), also known as Hunter syndrome, is a rare X-linked condition caused by mutations in the IDS gene. MPS-II is characterized by reduced or absent activity of the iduronate 2-sulfatase enzyme.


The clinical features and severity of symptoms of MPS-II are widely variable, ranging from severe disease to an attenuated form, which generally presents at a later onset with a milder clinical presentation. In general, symptoms may include coarse facies, short stature, enlarged liver and spleen, joint contractures, cardiac disease, and profound neurologic involvement leading to developmental delays and regression. Female carriers are usually asymptomatic.


The IDS gene is located on the X chromosome and has 9 exons. IDS is the only known gene to be associated with MPS-II. The recommended first-tier test for MPS-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 molecular gene testing. However, enzymatic testing is not reliable to detect carriers.


This test identifies whether a previously identified familial mutation in the IDS gene is present.

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

Carrier testing of individuals with a family history of mucopolysaccharidosis type II (Hunter syndrome)


Diagnostic confirmation of mucopolysaccharidosis type II (Hunter syndrome) when familial mutations have been previously identified

Interpretation Provides information to assist in interpretation of the test results

An interpretive report will be provided.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

The identification of a disease-causing mutation in an affected family member is necessary before predictive testing for other family members can be offered. If a familial mutation has not been previously identified, order HUNTS / Hunter Syndrome, Full Gene Analysis.


Analysis is performed only for the provided familial mutations. This assay does not rule out the presence of other mutations within this gene or within other genes that may be associated with metabolic disease.


A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.


Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Clinical References Provides recommendations for further in-depth reading of a clinical nature

1. Lagerstedt K, Karsten SL, Carlberg BM, et al: Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome. Hum Mol Genet 1997;6(4):627-633

2. Martin R, Beck M, Eng C, et al: Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics 2008;121(2):e377-386

3. Wraith JE, Scarpa M, Beck M, et al: Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr 2008;167(3):267-277