Sanfilippo Syndrome (MPS III) : Enzyme Panel

Test Information

This panel of 4 enzymes is intended for patients with a clinical suspicion of Mucopolysaccharidosis III (MPS III), Sanfilippo Syndrome. This biochemical analysis is intended for patients with clinical evidence of Sanfilippo syndrome, and each of these enzymes can be ordered individually.

Turnaround Time

2 weeks

CPT Code(s)

82657 x4

Cost

$800


Enzymes

Heparan-N-sulfatase
N-acetyl-alpha-D-glucosaminidase
Acetyl CoA: glucosamine N acetyl transferase
N-acetyl glucosamine-6-sulfatase

Clinical Information

Sanfilippo syndrome is characterized by progressive developmental delay and behavioral problems. These patients have fewer of the somatic concerns seen in other types of MPS disorders. Sanfilippo syndrome is caused by a defect in one of four enzymes required for the modification and removal of glucosamine residues from heparan sulfate. A defect in one of these four enzymes (types A-D) results in the accumulation of heparan sulfate in the patient's cells and organs which overtime leads to the clinical phenotype. Patients with Sanfilippo syndrome experience delayed development with a progressively deteriorating mental status. Behavior and sleep problems are common as well as coarse facial features and stiff joints. The four types of Sanfilippo syndrome (A-D) are clinically indistinguishable, thus enzyme testing is recommended as an initial diagnostic test.

Indications

There are four enzymatically distinct forms of Sanfilippo syndrome with significant clinical overlap. Enzymatic testing is necessary to further distinguish between the following four types. These four enzymes are required for the modification and removal of glucosamine residues from heparan sulfate. These defects result in the accumulation of heparan sulfate in the patient's cells and organs which overtime leads to the clinical phenotype. Enzyme analysis for each type of Sanfilippo syndrome may be ordered individually or as a panel.

Methodology

4-methylumbelliferyl substrate

Specimen Requirements

Test requires 7- 10 ml of whole blood in a sodium heparin (green top) tube. Leukocytes are used for enzyme analysis for Sanfilippo A, C and D. Plasma is used for enzyme analysis for Sanfilippo B. Enzymes can also be measured via fibroblasts for all four types.

Transport Instructions

Whole blood samples for enzyme testing should be shipped at ambient temperature and must arrive at the laboratory the next day.

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
Falecia Thomas, MS, CGC

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with LEARN MORE

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