NEUROLOGICAL GENETIC TESTING

Neurological Genetic Testing — over 1,000 genes cause neurological conditions, and gene-specific therapies are transforming neurology from symptomatic treatment to precision medicine.

Whole genome sequencing evaluates ALL neurological disease genes — neurodegenerative, epilepsy, movement disorders, neuropathy, neuromuscular, and cerebrovascular — from a single blood sample with reanalysis capability.

About this condition

Neurological Genetic Testing — Comprehensive

Neurological genetics is one of the most gene-rich areas of medicine — over 1,000 genes cause neurological conditions spanning neurodegenerative disease (Alzheimer's, Parkinson's, ALS, Huntington's, FTD), epilepsy (SCN1A, KCNQ2, CDKL5, and 500+ epilepsy genes), movement disorders (dystonia, ataxia, parkinsonism), neuropathy (CMT, 100+ genes), and cerebrovascular disease (CADASIL, Fabry).

Gene-specific neurological therapies are rapidly expanding: tofersen for SOD1-ALS, nusinersen/onasemnogene for SMA, migalastat for Fabry disease, enzyme replacement for Gaucher and Pompe, precision anti-seizure medications guided by channel genotype (sodium channel blockers for SCN1A gain-of-function, avoided in SCN1A loss-of-function), and antisense oligonucleotides in development for Huntington's, C9orf72 ALS, and CMT1A.

Standard neurological gene panels test 50-200 genes for specific indications (epilepsy panel, neuropathy panel, ataxia panel). These indication-specific panels miss: (1) phenotypically overlapping conditions (a dystonia gene on an epilepsy panel), (2) rare genes not included on curated panels, (3) structural variants (repeat expansions, deletions), and (4) new genes discovered after the panel was designed. WGS evaluates all neurological genes simultaneously with reanalysis as new genes are discovered.

Neurological gene panels test 50-200 genes for one indication. But neurology is gene-rich with 1,000+ genes and significant phenotypic overlap. WGS skips the panel selection problem entirely — every neurological gene is evaluated in one test.

Gene locus: 1,000+ genes across all chromosomes

With 1,000+ neurological genes and rapidly expanding gene-specific therapies, WGS is the only test that evaluates all neurological genes simultaneously and supports reanalysis as new treatments emerge.

Gene-specific neurological therapies require molecular diagnosis — tofersen for SOD1-ALS, precision ASMs for epilepsy

Tofersen (SOD1-ALS), nusinersen (SMA), migalastat (Fabry), and precision anti-seizure medications all require specific molecular diagnosis. Without comprehensive genetic testing, patients with treatable genetic neurological conditions may never receive gene-specific therapy.

Phenotypic overlap means indication-specific panels miss diagnoses — WGS evaluates all possibilities

A patient with epilepsy may have a movement disorder gene causing seizures. A patient with neuropathy may have a metabolic gene causing nerve damage. Indication-specific panels only test genes associated with the suspected diagnosis. WGS tests everything, finding the unexpected diagnoses that panels are designed to miss.

One test. A lifetime of answers.

One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. 200+ physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

From $449

Ships within 48 hours · Results in 6–8 weeks

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