Invitae GM2 Gangliosidosis Panel
Use
The Invitae GM2 gangliosidosis Test analyzes three genes associated with GM2-gangliosidoses. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identifying disease-causing variants provides accurate risk assessment and determines carrier status in at-risk relatives. The GM2 gangliosidoses are a group of neurodegenerative lysosomal storage diseases due to excessive accumulation of GM2 ganglioside, causing progressive neuronal dysfunction.
Special Instructions
Individuals with low β hexosaminidase enzyme activity must undergo variant analysis to confirm diagnosis due to the presence of pseudodeficiency alleles. Preferred specimens include 3mL whole blood in a purple-top EDTA tube.
Limitations
The test has >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp, and exon-level deletions and duplications. Certain variants, such as structural rearrangements or complex sequence regions, may not be detectable. The assay does not fully cover sequence changes in promoter and non-coding regions.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)