Maroteaux Lamy syndrome - Enzyme Analysis
|Disease name||Maroteaux Lamy syndrome (MPS VI)|
|Enzyme Name||Arylsulfatase B|
|Clinical info||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. Intelligence is typically not affected.|
|Indications||Arylsulfatase B is needed for the modification and removal of dermatan sulfate. Prenatal diagnosis and carrier testing via enzyme analysis are not available.|
|Methodology||Assays employ a 4-methylumbelliferyl substrate.|
|Associated Tests||Urinary excretion of dermatan sulfate is seen which can be assessed via MPS electrophoresis.
Arylsulfatase B enzyme analysis is also part of the MPS Enzyme Panel.
Molecular analysis of ARSB gene is also available for identification of the causative mutation within a family, carrier status and prenatal diagnosis.
|Specimen Requirements||Enzyme activity can be measured in leukocytes, dried blood spots (DBS), or cultured fibroblasts.
A whole blood sample (3-5 ml) should be collected in a green top, sodium heparin tube.
For DBS, a minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions.
Sample Collection and Requirements
Whole blood samples should be sent at ambient temperature and must arrive to the laboratory within 24 hours of the draw.For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Samples should be placed in the mail within 24 hours of collection. Overnight shipping is preferred.
Please contact the laboratory before transporting tissue for enzyme assay. Fresh tissue for culture should be sent by courier or 24-hour delivery.
|Turnaround time||14 days
Cell culture can take 1-4 weeks and may lengthen turnaround time.
The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.