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
One Mother's Story

One Mother's Story

After a long three-year struggle trying to have children, our son, Charlie, was born on April 18, 2009. He was our miracle...perfect in every way! When Charlie was five days old, our pediatrician called to notify us that one of the numbers from the heel prick test was a bit high. We headed to the hospital that afternoon for more tests. I will never forget the following day. It was cool and crisp - not a cloud in the sky....

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