Multiple Sulfatase Deficiency : Enzyme Panel

Test Information

This panel of 3 sulfatase enzymes is intended for patients with a diagnosis or clinical suspicion of Multiple Sulfatase Deficiency.

Turnaround Time

14 days

CPT Code(s)

82657 x2

Cost

$400


Enzymes

Arylsulfatase B
Iduronate-2-sulfatase
N-acetyl-galactosamine-6-sulfatase

Methodology

Quantifies level of 3 sulfatase enzymes via the 4-methylumbelliferyl substrate

Specimen Requirements

Enzyme activity can be measured in whole blood, cultured fibroblasts, or dried blood spots. Please send 5-7 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 blood draw. Cultured fibroblasts can 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. Ship 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, Enzyme Panels
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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