Mucopolysaccharidosis II (MPSII), Hunter Syndrome : IDS Deletion/Duplication (MLPA)

Test Information

IDS Deletion/Duplication (MLPA)is a molecular test used to diagnose Mucopolysaccharidosis II (MPS II), Hunter Syndrome.

Turnaround Time

3 weeks

CPT Code(s)

81404

Cost

$500

Genes

Clinical Information

Hunter syndrome is an X-linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. Features include coarse facial appearance, short stature, hepatosplenomegaly, intellectual disability and joint stiffness. Typically, the disorder is diagnosed by enzymatic assay, however, the determination of carrier status using enzyme assay has proved problematic.

Indications

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Methodology

multiplex ligation-dependent probe amplification (MLPA)

Detection

Sequencing of the gene will detect a mutation in 80-90% of individuals with Hunter syndrome. If no deleterious changes are identified, the laboratory will reflex to dosage studies via multiplex ligation-dependent probe amplification (MLPA) as well as checking for a specific inversion between IDS and IDS-2 at no additional cost.

Specimen Requirements

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA, dried blood spots, and saliva are also accepted for this test.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal Testing Information

Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

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

Deletion/Duplication, Molecular Testing
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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