Invitae Neuronal Ceroid Lipofuscinoses Panel
Use
The Invitae Neuronal Ceroid Lipofuscinoses Panel analyzes genes associated with neuronal ceroid lipofuscinosis, also known as Batten disease. This test is useful for diagnosing individuals suspected of NCL due to abnormal lab findings and clinical symptoms. Genetic testing of these genes may confirm a diagnosis and guide management decisions. It covers relevant genes to efficiently evaluate potentially associated genetic conditions.
Special Instructions
Adult-onset forms of NCL are not included but are orderable as add-ons. If epilepsy is the primary symptom without other NCL symptoms, consider the Invitae Epilepsy Panel as it includes most NCL genes. Comprehensive pre-test genetic counseling is required for individuals under 18 considering testing for adult-onset forms of NCL.
Limitations
The test primarily covers clinically important regions including coding exons and select non-coding variants, with >99% sensitivity for single nucleotide variants, indels <15bp, and exon-level deletions/duplications. Limitations include potential reduced sensitivity for larger indels and undetectable structural rearrangements or mosaicism. Does not cover promoter or non-coding region changes unless specified.
New York Approved
Methodology
NGS (Targeted)
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)