Hurler syndrome (IDUA) Sequencing

Disorders Hurler syndrome, Hurler-Scheie syndrome, Scheie syndrome I (MPS I)
Gene Name IDUA
Clinical info Mucopolysaccharidosis type I (MPSI) is caused by deficient L-iduronidase enzyme activity, which results in an accumulation of the glycoamnioglycan heparan sulfate and dermatan sulfate in body tissues. MPS I is a multisystem progressive disorder demonstrating wide phenotypic variability with three different MPSI subtypes described (Hurler, Hurler-Scheie, and Scheie). Hurler syndrome is considered the more severe end of the phenotypic spectrum with patients generally diagnosed before 18 months of age while Hurler-Scheie and Scheie syndromes are usually used to describe the milder phenotypes. These less severe cases, also known as attenuated MPS I, will often present between 3 and 10 years of age. Clinical features of MPS I include coarse facial features, dysostosis multiplex, short stature, hirsutism, cloudy corneas, and hepatosplenomegaly, and cardiac comlications. Developmental delay and intellectual disability is more severe in those patients with Hurler syndrome and is a distinguishing feature between the subtypes of MPS I.
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. A diagnosis of MPS I is typically made first by measuring -L-iduronidase enzyme activity.
Associated Tests MPS Electrophoresis, Oligosaccharides, Hurler syndrome enzyme analysis
Detection Sequencing of the gene will detect about 97% of abnormal alleles in individuals with a biochemical diagnosis.
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 3 weeks
Prenatal testing Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Contact the laboratory prior to sending a prenatal specimen.
CPT Codes Unknown mutation: 81479

Known mutation: 81479

Deletion/Duplication Analysis: 81229
Cost $1000 for sequencing

$350 for known mutation

$700 for deletion/duplication analysis

Prenatal diagnosis for known mutation is $1000.  Please contact the laboratory 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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