Mucopolysaccharidosis II (MPSII), Hunter Syndrome : IDS Sequencing

Test Information

IDS sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis II (MPS II), Hunter Syndrome. This analysis also includes MLPA to identify copy number variants as well as analysis for the common inversion between IDS and IDS-2.

Turnaround Time

3 weeks

CPT Code(s)

81405

Cost

$1,000

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

Sanger Sequencing

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

Sanger Sequencing
Meet Jeremiah

Meet Jeremiah

Play peek-a-boo with 9 month-old Jeremiah Licorish of Florence, and you'll be rewarded with a huge grin that lights up both his and his mother's faces. But this family has been through the unthinkable over the past few months, with very few reasons to smile. At first things were going well. Jeremiah was a happy, healthy newborn, doted on by his mother, Aneesa, and his three big brothers. But when Jeremiah was around 5 months old, Aneesa noticed changes in her youngest son's development...

In The News