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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Mucopolysaccharidosis type II


Other Names for this Disease

  • Attenuated MPS (subtype; formerly known as mild MPS II)
  • Hunter syndrome
  • I2S deficiency
  • Iduronate 2-sulfatase deficiency
  • MPS 2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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Is carrier testing for mucopolysaccharidosis II (MPS II) available?

Yes, carrier testing for MPS II is available. Testing usually begins with an affected male relative, if one is available for testing, to determine the disease-causing mutation. If there is not living affected male relative, testing possible female carriers involves a type of genetic testing called sequence analysis. This test requires a small blood sample and reads through the genetic code of the IDS gene looking for errors. If a mutation is not found using sequence analysis, then two other tests can be performed to look for mutations that cause MPS II. Genetic testing detects most of the mutations that cause MPS II, but may not detect all mutations that cause this condition  Therefore, testing cannot definitively determine that a person is not a carrier for MPS II.[1]

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. Click here to link directly to a list of labs conducting carrier screening for MPS II. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

 

Last updated: 9/20/2013

References
  1. Martin RA. Mucopolysaccharidosis Type II. Gene Reviews. November 6, 2007; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hunter. Accessed 12/29/2008.


Other Names for this Disease
  • Attenuated MPS (subtype; formerly known as mild MPS II)
  • Hunter syndrome
  • I2S deficiency
  • Iduronate 2-sulfatase deficiency
  • MPS 2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.