GM1 gangliosidosis (GLB1) Sequencing
GM1 gangliosidosis is an autosomal recessive lysosomal storage disease with 3 clinical subtypes characterized by varying severity and age of onset. The primary features are neurodegeneration and skeletal abnormalities.
|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.|
Urine oligosaccharides is available in the Biochemical Diagnostic Lab and may be useful for screening for this disorder. Enzyme testing for beta-galactosidase activity is also available and can be used to help establish the 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 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
Deletion/duplication analysis: 81229
|Cost||$1200 for full sequencing (unknown mutation)
$350 for known mutation
$700 for deletion/duplication analysisPrenatal diagnosis for a known mutation is $1000. Please contact the lab for more information.
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.