Neuronal Ceroid Lipofuscinosis 3 (Batten Disease) via the CLN3 c.461-280_677+382 Deletion
Use
This test is intended for individuals for whom prior genetic testing was negative or detected a single variant associated with autosomal recessive disease in the relevant gene, and clinical suspicion is high for disease caused by that particular gene. It is also recommended for family members of patients who have tested positive for specific deletions or inversions.
Special Instructions
Individuals interested in obtaining this test should consider contacting a healthcare provider for further guidance. Special conditions such as prenatal testing and STAT testing options are available. Institutional pricing can be accessed through login for more specific client engagements.
Limitations
The performance characteristics of this test have been validated by PreventionGenetics LLC following CAP and CLIA regulations. However, the test has not been cleared or approved by the US Food and Drug Administration. Factors such as specimen quality and handling can affect test results. Genetic counseling is recommended for interpretation of results.
New York Approved
Methodology
PCR-based (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided