Genetic testing for neurological disorders

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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When to test

A multitude of symptoms can indicate a need for genetic testing

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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.

DIAGNOSIS

  • 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
PROGNOSIS

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

  • 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.

When is genetic testing appropriate?

Many factors can indicate when genetic testing should be considered as a next step in the diagnostic process, including:

  • Symptoms and phenotype suggestive of a well-known genetic syndrome
  • Unexplained developmental delay or autistic behavioral features
     

Neurology/Neuromuscular conditions

  • Seizures of unknown etiology
  • Muscle weakness/atrophy or gait abnormalities of unknown etiology
  • Movement disorders such as dystonia or parkinsonism or abnormalities of tone (hyper/hypotonia)
  • Symptoms suggestive of a neuropathy

Metabolics

  • Concerning biochemical results (positive newborn screening, elevated creatine phosphokinase, etc.)
  • Liver disease of unknown etiology
  • Acute onset behavioral change, psychiatric symptoms, altered level of consciousness
  • Hepatosplenomegaly, coarse facies suggestive of a storage disorder

Immunology

  • Hematologic abnormalities of unknown etiology
  • Frequent, recurrent infections, recurrent fevers, and unexplained bouts of inflammation without an infectious etiology suggestive of an underlying immune disorder
  • Neurocutaneous findings (café au lait spots, shagreen patches, ash leaf macules, angiokeratomas)
  • Congenital heart defect, arrhythmia, cardiomyopathy, pulmonary hypertension, features suggestive of an aortopathy or connective tissue disorder, laboratory results consistent with familial hypercholesterolemia
  • Unexplained vision or hearing loss
  • Abnormal radiographs suggestive of skeletal dysplasia or craniosynostosis
  • Endocrine abnormalities of unknown etiology
  • Family history of a genetic condition


Should you require assistance in determining which test to select, our clinical team is here to assist you in the process.

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

The Alnylam Act program offers genetic testing at no charge for individuals (over 18 years of age) who may carry a genetic variant associated with hereditary ATTR (hATTR) amyloidosis, an inherited disease that is often misdiagnosed due to its constellation of symptoms.

Does my patient qualify?

Alnylam Act®: acute hepatic porphyrias

Invitae and Alnylam have partnered to offer genetic testing at no charge for individuals (over 16 years of age) who may carry a genetic variant in one of the four genes associated with the acute hepatic porphyrias, a disease characterized by potentially life-threatening attacks of chronic, debilitating symptoms.

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?

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 14 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 at no additional charge.

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

Get started with Invitae genetics today

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.

3. Receive an email when your results are ready (14 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

Reference

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