Maroteaux-Lamy syndrome (ARSB) Sequencing
|Disorder||Maroteaux-Lamy Syndrome, MPS VI|
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.
|Indications||Diagnosis is typically initially made by enzyme testing. 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.|
|Specimen Requirements||5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml|
|Transport||The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. 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.|
|Turnaround time||3 weeks|
|Prenatal testing||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.|
|CPT Codes||Unknown mutation
|Cost||$800 for sequencing
$350 for known mutation
Molecular Diagnostic Lab
The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.