Hunter Syndrome (IDS) Sequencing

Disorder Hunter syndrome (MPS II)
Gene Name IDS
Clinical info 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 mutation within a family to allow for carrier testing and prenatal diagnosis.
Associated Tests MPS Electrophoresis
Oligosaccharides
Hunter syndrome enzyme analysis
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 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. 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.
Turnaround time 21 days
Prenatal testing Prenatal diagnosis is available if the familial mutation is 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.
CPT Codes Unknown mutation: 81479

Known mutation: 81479

Cost

$1000 for sequencing  (this includes reflex to deletion/duplication and common inversion analysis)

$350 for known mutation

Prenatal diagnosis for a known mutation is $1000.  Please contact the lab for more information.

Contact For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS, Lab Counselor at 1-800-473-9411.

Molecular Diagnostic Lab

The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.

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