Sanfilippo syndrome, Type A (SGSH) sequencing

Disorder Sanfilippo, Type A (MPS IIIA)
Gene Name SGSH
Clinical info Sanfilippo syndrome is caused by a defect in one of four enzymes required for the modification and removal of glucosamine residues from heparan sulfate. A defect in one of these four enzymes (types A-D) results in the accumulation of heparan sulfate in the patient’s cells and organs which overtime leads to the clinical phenotype. Patients with Sanfilippo syndrome experience delayed development with a progressively deteriorating mental status. Behavior and sleep problems are common as well as coarse facial features and stiff joints. The four types of Sanfilippo syndrome (A-D) are clinically indistinguishable, thus enzyme testing is recommended as an initial diagnostic test.
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.
Associated Tests MPS Electrophoresis
Sanfilippo syndrome enzyme panel
Sanfilippo syndrome, Type B (NAGLU) sequencing
Sanfilippo syndrome, Type C (HGSNAT) sequencing

Sanfilippo syndrome, Type D (GNS) sequencing
Detection Sequencing of the gene will detect mutations in >90% of individuals with enzymatically confirmed Sanfilippo syndrome, Type A.
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 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.
CPT Codes Unknown mutation: 81479

Known mutation: 81404

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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