Schindler/Kanzaki Disease : N-acetyl-alpha galactosaminidase Enzyme Analysis

Test Information

This biochemical test is a quantitative measurement of N-acetyl-alpha galactosaminidase enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Schindler/Kanzaki disease. Demonstration of deficient N-acetyl-alpha galactosaminidase enzyme activity is considered the gold standard to confirm a diagnosis of Schindler/Kanzaki disease.

Turnaround Time

2 weeks

CPT Code(s)

82657

Cost

$200


Enzymes

N-acetyl-alpha galactosaminidase

Clinical Information

Schindler disease is a rare, autosomal recessive lysosomal storage disorder characterized by varying degrees of neurologic impairment. In the infantile form of Schindler disease (Type I), developmental regression becomes evident around the age of one in a previously healthy child. In addition to this rapid progression of intellectual disability, affected children develop optic atrophy leading to vision loss, spasticity, and seizures. Muscle atrophy and contractures may occur, and patients generally become unresponsive to their surroundings. Most affected individuals die in early childhood. Type II Schindler, also known as Kanzaki disease, is an adult-onset disorder associated with muscle weakness, hearing loss, mild intellectual changes, and angiokeratomas. An intermediate type may exist, and its features include developmental delays, seizures, cardiomyopathy, hepatomegaly, and behavioral changes.

Indications

This test can be used to confirm a suspected Schindler/Kanzaki disease diagnosis.

Methodology

4-methylumbelliferyl substrate

Specimen Requirements

Enzyme activity can be measured in plasma, cultured fibroblasts, or dried blood spots. For plasma, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. Plasma can also be removed from spun down sample and sent frozen. 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).

Transport Instructions

Whole blood should be sent over overnight at ambient temperature. Plamsa can be removed once the sample has been drawn and sent frozen on dry ice. Do not freeze whole blood.

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. Samples should be placed in the mail within 24 hours of collection. Overnight shipping is preferred.

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, Individual Enzyme Assays
Meet Ella

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 Dr. Roger Stevenson ...

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