Hunter Syndrome (MPS II): IDS Deletion/Duplication MLPA

Clinical Information

Hunter syndrome is an X-linked lysosomal storage disorder caused by a deficiency of enzyme iduronate-2-sulfatase. Features include coarse facial appearance, short stature, hepatosplenomegaly, intellectual disability and joint stiffness.

Technical Information

IDS deletion/duplication MLPA is automatically performed at no additional charge when a causative sequence variant is not identified, as IDS sequencing only detects causative variants in 82% of individuals with Hunter syndrome. Approximately 9% of individuals with Hunter syndrome have a deletion or duplication within the IDS gene that would be detected by MLPA. IDS deletion/duplication can also be requested as a stand-alone test when there is a family history of a deletion or duplication within the IDS gene.

Specimen Requirements

• The preferred sample type is 3-4 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Blood and saliva kits are available upon request.
• Send approximately 5µg of extracted DNA at a requested concentration of 90-130 ng/µl.
• Saliva samples must be submitted in an approved saliva kit.

Transport Instructions

• The blood 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.
• Extracted DNA should be sent at room temperature via overnight delivery.
• Saliva is stable at room temperature and can be delivered via overnight or ground shipping.