Hunter Syndrome, Full Gene Analysis
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 test or proper submission of the test request
Testing includes full gene sequencing of the IDS gene.
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 screens for mutations in all 9 exons of the IDS gene.
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.
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
A small percentage of individuals who are carriers or have a diagnosis of mucopolysaccharidosis type II (MPS-II) may have a mutation that is not identified by this method (eg, large genomic deletions, promoter mutations). The absence of a mutation, therefore, does not eliminate the possibility of positive carrier status or the diagnosis of MPS-II. The preferred approach to carrier testing is to first document the presence of an IDS gene mutation in an affected family member.
In some cases, DNA alterations of undetermined significance may be identified.
Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.
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.
Clinical Reference 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