Mucopolysaccharidosis (MPS) : Enzyme Panel (DBS)

Test Information

 

Turnaround Time

3 weeks

CPT Code(s)

82657 x4

Cost

$800


Enzymes

alpha-iduronidase
Arylsulfatase B
beta-galactosidase
beta-glucuronidase
Iduronate-2-sulfatase
N-acetyl-?-glucosaminidase
N-acetyl galactosamine-6-sulfatase

Clinical Information

The mucopolysaccharidoses are a group of inherited lysosomal storage disorders, each with a distinctive phenotype and a progressive course due to a specific enzyme deficiency. These enzymes are involved in the degradation of specific glycosaminoglycans. This test includes quantitative measurement of total glycosaminoglycans as well as quantitation of the individual GAG components, including heparan sulfate, dermatan sulfate, chondroitin sulfate, and keratan sulfate.

Indications

Glycosaminoglycans are typically elevated in the urine of affected patents. For patients with a suspected MPS diagnosis, measurement of glycosaminoglycans in urine can be a useful screening test.

Methodology

The activity of 7 enzymes are measured from a dried blood spot. Beta-galactosidase is measured using a 4-methylumbelliferyl substrate. The other 6 enzymes are measured using a multiplexed assay via tandem mass spectrometry (LC-MS/MS).

Specimen Requirements

To ensure sufficient quantity for testing, please fill five circles on the card if possible. Cards are available upon request, and 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

DBS Collection Instruction Video

Transport Instructions

When sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Sample should be sent 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 Panel, 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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