Mucopolysaccharidosis (MPS) : Enzyme Panel (DBS)

Test Information

 

 

This panel of 7 enzymes can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis (MPS). This biochemical analysis is intended for patients with clinical evidence of mucopolysaccharidosis, and each of these enzymes can also be ordered individually. Please note that this panel does not include analysis for Sanfilippo types A, C, or D.


 

 

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
Lucy's Story

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis...

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