Mucopolysaccharidosis VI, Maroteaux-Lamy syndrome : Arylsulfatase B Enzyme Analysis

Test Information

This biochemical test is a quantitative measurement of Arylsulfatase B enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis VI (MPSVI)/Maroteaux-Lamy syndrome. Demonstration of deficient Arylsulfatase B enzyme activity is considered the gold standard to confirm a diagnosis of Mucopolysaccharidosis VI (MPSVI)/Maroteaux-Lamy syndrome.

Turnaround Time

2 weeks

CPT Code(s)

82657

Cost

$200


Enzymes

Arylsulfatase B

Clinical Information

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

This test can be used to confirm a suspected Maroteaux Lamy syndrome diagnosis.

Methodology

4-methylumbelliferyl substrate

Specimen Requirements

Enzyme activity can be measured in leukocytes, cultured fibroblasts, or dried blood spots. For leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. For dried blood spot collection, 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.

Transport Instructions

Whole blood samples (for leukocyte analysis) should be shipped at ambient temperature and must arrive at the laboratory within 24 hours of specimen collection.

Cultured fibroblasts should be sent overnight at room temperature.

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 can be mailed at ambient temperature.

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

Biochemical Testing, Enzyme Analysis, Individual Enzyme Assays
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Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two.   At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words.  She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it.  Then she suddenly stopped all of that.  At her 2 year old check-up, the pediatrician referred us to BabyNet, ...

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