Genetic testing for neurological conditions

Genetic testing enables tailored treatments



Invitae advantage

3000+ genetic conditions affect the neurological system; 75% of these affect children.1

Putting genetics to work for your patients

Benefits of testing

Genetic information is crucial for proper diagnosis and management

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Test options

A broad test menu ensures we have the right tests for your patients

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Invitae advantage

Partner programs provide eligible patients with no-charge testing

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Benefits of genetic testing

As our understanding of genetic conditions increases, so too do advances in therapeutic interventions.

It’s becoming more and more important to know a patient's specific genotype to tailor treatment to their condition and in certain instances confirm eligibility for clinical trial participation.


  • Confirms a clinical diagnosis in a cost-effective, reliable and quick manner
  • Reduces the need for more invasive procedures (e.g., muscle biopsies, lumbar puncture, EMG)
  • Ends the diagnostic odyssey and allows the family to seek support from relevant advocacy groups

  • Provides a better understanding of the patient's clinical course and prognosis
  • Yields information regarding risk to family members and recurrence risk for patient

  • Allows treatment tailored to a patient's specific genotype and avoidance of contraindicated medications or procedures
  • Identifies recommended surveillance for other organ systems that may not previously have been considered
  • May offer patients the opportunity to participate in clinical trials and newly developed targeted treatments

Genetic testing is recommended by guidelines and consensus statements endorsed by medical societies including the American College of Medical Genetics, American Academy of Neurology, American Epilepsy Society, Child Neurology Society, National Society of Genetic Counselors, American College of Obstetrics and Gynecology, and American Society of Human Genetics.

A comprehensive genetic testing menu

Invitae’s broad test catalog ensures you can order the right test for each patient. Options include:

Epilepsy seizures and developmental disorders

  • Epilepsy
  • RASopathies
  • Ciliopathies
  • Tuberous sclerosis complex
  • Neurodegeneration with brain iron accumulation

Neurodegenerative disorders

  • Hereditary dementia
  • Amyotrophic lateral sclerosis
  • Hereditary Alzheimer’s disease

Neuromuscular disorders

  • Comprehensive muscular dystrophy
  • Comprehensive myopathy
  • Myotonia congenita
  • Spinal muscular atrophy

Neuropathies and related disorders

  • Charcot-Marie-Tooth disease
  • Hereditary sensory and autonomic neuropathy
  • Hereditary spastic paraplegia
  • Familial dysautonomia

Movement disorders

  • Isolated dystonia
  • Combined dystonia
  • Hereditary Parkinson’s disease
  • Kufor-Rakeb syndrome
  • DOPA-responsive dystonia

Cardiomyopathy and skeletal muscle disease

  • Inherited cardiomyopathies
  • Skeletal muscle disease
  • Syndromic causes of cardiomyopathy

Which test should I order?

Invitae's experienced genetic counselors and world class scientists are available to help you decide which test is the most appropriate for your patient.

Our Clinical Consult team can assist in reviewing patient cases that may benefit from genetic testing, explaining the difference between genetic tests, and aiding in interpreting results.

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Sponsored testing programs for patients

Behind the Seizure®: epilepsy

Invitae and BioMarin have partnered to offer pediatric epilepsy testing at no cost to the patient. With more than 50% of epilepsies linked to a genetic basis, early testing may be the most direct, cost-effective, and accurate diagnostic tool.

Does my patient qualify?

Alnylam Act®: hereditary ATTR amyloidosis

Alnylam has partnered with Invitae to offer genetic testing at no charge for individuals (over 18 years of age) who may carry a genetic mutation associated with hereditary ATTR (hATTR) amyloidosis, an inherited, rapidly progressive, life-threatening disease.

Does my patient qualify?

Alnylam Act®: Acute Hepatic Porphyria

Alnylam has partnered with Invitae to offer genetic testing at no charge for individuals (over 16 years of age) who may carry a genetic mutation associated with acute hepatic porphyria (AHP), a family of rare, genetic diseases characterized by potentially life-threatening attacks and, for some patients, chronic debilitating symptoms that negatively impact daily functioning and quality of life.

Does my patient qualify?

Uncovering Periodic Paralysis

Invitae and Strongbridge have partnered to offer a periodic paralysis gene panel test for those (over 18 years of age) who have episodic muscle weakness or temporary paralysis provoked by common triggers for this disorder.

Does my patient qualify?

SMA Identified

Biogen, together with Invitae, is offering no-charge genetic testing to patients suspected of having or clinically diagnosed with spinal muscular atrophy (SMA). The SMA Identified Program facilitates access to genetic testing to help accelerate or confirm the diagnosis of SMA.

Does my patient qualify?

Ready to get started? Create an account today.

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Invitae is working toward one simple goal: Making quality genetic testing accessible to those who need it.

Test any number of neurology genes for the same low price.

Receive results in 10-21 days, on average

Testing is covered by many insurance plans.

Our $250 patient-pay option and patient assistance program help make high-quality testing accessible.

Negative result? Test other neurology genes at no additional charge.

Positive result? Test blood relatives.

Genetic counselors available on demand to discuss tough cases and even counsel your patients directly

Get started

1. Request free kits for collecting patient specimens

2. Order a test using Invitae’s HIPAA-compliant online portal or on paper

  • Call Clinical Consult at 800-436-3037 if you would like to review patient cases or differentiate between testing options.

  • Patients can also contact Client Services for billing and insurance-related questions.

3. Receive an email when your results are ready (10-21 calendar days, on average)

  • If you have any questions about the results or their clinical implications, our genetic counselors are available to discuss.

Have questions?

Our Clinical Consult team is ready to answer your questions about selecting a genetic test or how to get started.

Clinical Consult

Take the first step by requesting a free specimen collection kit today.

Request a kit


  1. Statistic courtesy of the Child Neurology Foundation and Global Genes.