Mucopolysaccharidosis VI (MPSVI), Maroteaux-Lamy syndrome : ARSB Sequencing

Test Information

ARSB sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis VI (MPSVI), Maroteaux-Lamy syndrome.

Turnaround Time

3 weeks

CPT Code(s)

81479

Cost

$800.00

Genes

Clinical Information

Maroteaux-Lamy syndrome, also known as mucopolysaccharidosis VI, is a lysosomal storage disorder caused by a deficiency in the arylsulfatase B enzyme.

The clinical features include short stature, corneal clouding, hepatosplenomegaly, cardiac abnormalities, and skeletal findings such as dysostosis multiplex and joint contractures. However, unlike many of the other MPS disorders, individuals with Maroteaux-Lamy generally have normal intelligence.

Maroteaux Lamy syndrome is characterized by short stature, coarse facies, corneal clouding, joint stiffness and contractures and splenomegaly. Other features may include inguinal hernia, obstructive airway disease, skeletal abnormalities and cardiac valve disease. The progression of Maroteaux Lamy syndrome varies among affected individuals, and intelligence is typically not affected.

Indications

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Methodology

Sanger Sequencing

Specimen Requirements

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA, dried blood spots, and saliva are also accepted for this test.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal Testing Information

Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Sanger Sequencing
Meet Reggie Roper

Meet Reggie Roper

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noonan-like syndrome with loose anagen hair by identifying a mutation in the SHOC2 gene. He is also an active participant in the Greenwood Community Theatre's Penguin Project. "GGC is...

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