Neurology Genetic Panel
Hereditary neurological condition screening
What is this test?
Our Neurology Genetic Panel analyzes over 300 genes associated with hereditary neurological disorders — from epilepsy and movement disorders to peripheral neuropathies and neurodegenerative conditions. A single blood sample can provide a definitive genetic diagnosis, end the diagnostic odyssey, and guide targeted treatment strategies.
Key Benefits
Patients with rare neurological conditions often see multiple specialists over years. A single genetic test can provide a definitive answer.
Certain genetic epilepsies and neuropathies respond to specific treatments — an accurate diagnosis can change the therapeutic approach.
Once a pathogenic variant is identified, at-risk family members can be tested with a simple, focused assay.
Over 300 genes in one panel eliminates the need for multiple sequential tests, saving time and cost.
How It Works
Your neurologist or genetic counselor orders the test and explains what to expect.
A simple blood draw or saliva sample is collected at your clinic or our partner laboratory.
DNA is extracted and over 300 neurological genes are sequenced on our Illumina platform platform.
Board-certified molecular geneticists classify every variant using ACMG/AMP guidelines and current medical literature.
A comprehensive report is delivered to your physician with optional genetic counseling to discuss findings and next steps.
Who should consider this test?
- Individuals with a family history of neurological disorders
- Patients with undiagnosed or treatment-resistant neurological symptoms
- Children with developmental delays, seizures, or regression
- Adults with early-onset dementia or movement disorders
- Families seeking a genetic explanation for chronic neurological conditions
Conditions Screened
Accuracy & Clinical Evidence
>99.5% analytical sensitivity for SNVs and small indels in targeted regions
Diagnostic yield for neurology gene panels ranges from 15% to 40% depending on the clinical phenotype, with epilepsy panels consistently showing the highest yields. Identified variants directly influence treatment in approximately 30% of positive cases.
Scientific Detail
The panel covers coding exons and flanking intronic regions (±20 bp) of over 300 genes implicated in monogenic neurological conditions. Analytical methods include paired-end sequencing, alignment to GRCh38, and variant calling with GATK HaplotypeCaller. Copy number variants are detected using a validated read-depth algorithm. Variants are classified per ACMG/AMP 2015 standards with ClinVar, HGMD, and gnomAD annotation.
For Healthcare Providers
This panel uses a tiered analysis approach covering 300+ genes associated with neurological phenotypes. Sequencing is performed on Illumina platform with a minimum 100x mean coverage. CNV analysis via read-depth algorithms is included. Reflex to WES is available if the panel is negative.
Important Limitations
- Does not detect trinucleotide repeat expansions (e.g., large CAG repeats in Huntington disease) — dedicated repeat-expansion assays are recommended for these conditions.
- Variants of uncertain significance (VUS) may be reported and may require periodic reclassification.
- Mitochondrial DNA variants are not fully assessed by this nuclear gene panel.
- Deep intronic and regulatory variants outside the targeted regions may be missed.
- Somatic mosaicism below approximately 15% variant allele fraction may not be detected.
Frequently Asked Questions
Test Details
Interested in this test?
Speak with our team to learn more about ordering this test or to get a consultation.
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