Referred Tests
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing. | |
Test ID: MP3DZ
Mucopolysaccharidosis IIID, Full Gene Analysis, Varies
Useful For 
Suggests clinical disorders or settings where the test may be helpful
Identifying variants 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 variants have not been previously identified
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 performed at an additional charge.
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Mucopolysaccharidosis type III (MPS-III), also known as Sanfilippo syndrome, is an autosomal recessive condition that consists of 4 different types (A, B, C, and D). Each type of MPS-III results from the absence of 1 of 4 lysosomal enzymes, which leads to the lysosomal accumulation of heparan sulfate.
Mucopolysaccharidosis type IIID (MPS-IIID), or Sanfilippo syndrome D, is caused by variants in the GNS gene and is characterized by reduced or absent activity of the N-acetylglucosamine-6-sulfatase enzyme. This test screens for variants in all 14 exons of the GNS gene.
Sanfilippo syndrome is characterized by severe central nervous system (CNS) degeneration with only mild physical disease. Onset of clinical features, most commonly behavioral problems and delayed development, usually occurs between 2 and 6 years in a child who previously appeared normal. Severe neurologic degeneration occurs in most patients by 6 to 10 years, accompanied by a rapid deterioration of social and adaptive skills. Death generally occurs by the 20’s.
Measurement of mucopolysaccharides in blood or urine can aid in diagnosis and ongoing therapeutic monitoring (MPSBS / Mucopolysaccharidosis, Blood Spot or MPSQU / Mucopolysaccharides Quantitative, Random, Urine).
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.
Interpretation Provides information to assist in interpretation of the test results
All detected alterations will be evaluated according to American College of Medical Genetics and Genomics (ACMG) recommendations.(1) Variants will be classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
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 MPS-IIID may have a variant that is not identified by this method (eg, large genomic deletions, promoter alterations). The absence of a variant, therefore, does not eliminate the possibility of positive carrier status or the diagnosis of MPS-IIID. The preferred approach to carrier testing is to first document the presence of a GNS gene variant 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.
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 Recommendations for in-depth reading of a clinical nature
1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424
2. Jansen AC, Cao H, Kaplan P, et al: Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene. Arch Neurol. 2007;64(11):1629-1634
3. Valstar MJ, Ruijter GJ, van Diggelen OP, et al: Sanfilippo syndrome: a mini-review. J Inherit Metab Dis. 2008;31(2):240-252