Interpretive Handbook

Test 61823 :
Mucopolysaccharidosis VI, Known Mutation

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

Mucopolysaccharidosis type VI (MPS-VI), also known as Maroteaux-Lamy syndrome, is an autosomal recessive condition that is caused by mutations in the ARSB gene and is characterized by reduced or absent activity of the arylsulfatase B enzyme. This test screens for mutations in all 8 exons of the ARSB gene.


The clinical features and severity of symptoms of Maroteaux-Lamy are widely variable. Typically it is characterized by short stature, dysostosis multiplex, facial dysmorphism, stiff joints, hepatosplenomegaly, corneal clouding, cardiac defects, and usually normal intelligence. With a rapidly progressing form of MPS-VI, onset occurs before 2 to 3 years of age with death typically occurring in the second to third decade. With a slowly progressing form of MPS-VI, a diagnosis usually occurs after 5 years of age but may not occur until the second or third decade.  


The recommended first-tier test for MPS-VI is biochemical testing that measures arylsulfatase B enzyme activity in fibroblasts (ARSB / Arylsulfatase B, Fibroblasts). Individuals with decreased or absent enzyme activity are more likely to have 2 identifiable mutations in the ARSB gene by molecular genetic testing. However, enzymatic testing is not reliable to detect carriers.

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

Carrier testing of individuals with a family history of mucopolysaccharidosis type VI (MPS-VI)


Diagnostic confirmation of MPS-VI 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 MPS6S / Mucopolysaccharidosis VI, 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.


We strongly recommend that patients undergoing predictive testing receive genetic counseling both prior to testing and after results are available.  


Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Any error in the diagnosis or in the pedigree provided to us, including false paternity, could lead to erroneous interpretation of results.


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.

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. Litjens T, Hopwood JJ: Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. Hum Mutat 2001;18(4):282-295

2. Richards CS, Bale S, Bellissimo DB, et al: ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med 2008:10(4):294-300

3. Valayannopoulos V, Nicely H, Harmatz P, et al: Mucopolysaccharidosis VI. Orphanet J Rare Dis 2010;5:5