A Guide to Getting Genetic Testing for Neurological Symptoms

18 February 2026

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Experiencing neurological symptoms can be unsettling, often leading to a search for clear answers. Genetic testing has emerged as a powerful tool in modern medicine, offering insights that were once out of reach.

This process examines your DNA to identify changes, called pathogenic variants, linked to specific health conditions, helping doctors diagnose and manage neurological disorders more effectively.

We speak to Paige Davis, M.D., a pediatric neurologist at INTEGRIS Health Medical Group Pediatric Specialties, to learn more.

“For some children and adults dealing with unexplained neurological issues, genetic testing can provide clarity and a path forward,” Davis says.

How does genetic testing work?

The basics: Genetic testing involves analyzing a small sample of your blood, saliva or tissue to examine your DNA. This process can pinpoint specific variations in your genes that may cause or increase the risk for certain neurological conditions. These genetic variants can be inherited or occur sporadically. Genetic information helps doctors create a more precise diagnosis and treatment plan.

A simple blood draw or saliva sample is usually all that is needed.
Lab technicians look for changes in genes, chromosomes or proteins.
Results can confirm a diagnosis or sometimes assess risk for future conditions.
The testing process is safe and straightforward for the patient.

This powerful tool in neurology can provide definitive answers when symptoms arise. Understanding the genetic basis of a condition allows for tailored medical advice and management strategies. It’s a key step in personalizing a patient’s treatment plan.

What neurological issues can genetic testing identify?

The scope: Genetic testing can identify a wide range of neurological disorders, from conditions that cause progressive decline to those affecting nerves, muscles and movement. By pinpointing the specific pathogenic variants, doctors can better understand the root cause of neurological symptoms and provide a more accurate diagnosis.

It helps distinguish between different neurodegenerative diseases.
Testing can identify certain neuropathies and myopathies.
It is crucial for diagnosing various movement disorders.
Specific genes linked to epilepsy can be found through testing.

Neurodegenerative diseases can be identified through genetic testing, which looks for specific genetic variants linked to conditions like Huntington’s disease or certain forms of early-onset Alzheimer’s disease and amyotrophic lateral sclerosis (ALS). This helps confirm a diagnosis when symptoms are present and can also predict risk in family members, though early testing should only be completed after thorough discussion with a medical provider.

Detects the genetic variants responsible for Huntington’s disease
Identifies genetic risk factors for early-onset Alzheimer’s
Can find genes associated with familial forms of ALS
Helps differentiate between various types of dementia

Nerve and muscle disorders such as Charcot-Marie-Tooth disease and muscular dystrophies are often diagnosed using genetic tests. These tests can identify the faulty genes responsible for these conditions.

Confirms various types of muscular dystrophy
Identifies gene changes linked to Charcot-Marie-Tooth disease
Diagnoses spinal muscular atrophy (SMA)
Can uncover the genetic cause of inherited myopathies

Movement and coordination disorders, including dystonia and certain types of ataxia, can have a strong genetic component. Genetic testing can pinpoint the exact variant, which is essential for accurate diagnosis and for understanding how the condition might progress over time.

Detects genetic variants that cause various forms of dystonia
Helps diagnose hereditary ataxias, like Friedreich’s ataxia
Identifies genetic links to some forms of Parkinson’s disease
Provides information for family planning and risk assessment

Epilepsy and seizure disorders can sometimes be caused by genetic variants, and testing can identify these specific genes. This information is valuable for determining the most effective anti-seizure medications and for understanding if the condition might be passed on to children.

Finds genes associated with inherited epilepsy syndromes
Can explain why some individuals develop seizures
Guides the selection of appropriate anti-seizure medications
Helps assess the risk of seizures in other family members

Understanding the different types of genetic testing

Why it matters: There are several types of genetic tests, each designed for a specific purpose. From confirming a diagnosis in someone with symptoms to assessing risks for future generations, understanding the different tests available is key to making informed health care decisions.

Diagnostic testing is for individuals who already have symptoms.
Predictive testing assesses risk before symptoms appear.
Carrier testing identifies if you carry a gene for a disorder.
Pharmacogenetics helps determine the best medication.
Prenatal and newborn screening checks for certain genetic issues early in life.

Diagnostic testing is used to identify or rule out a specific genetic condition in a person who is already showing symptoms. It can provide a definitive answer, which helps guide the treatment and management of neurological symptoms.

Confirms a diagnosis when a doctor suspects a genetic disorder
Can end a long search for answers
Provides clarity for managing the condition effectively

Predictive testing is offered to individuals who do not have symptoms but have a family history of a genetic disorder. This can help adults understand their risk of developing a condition like Huntington’s disease later in life.

Assesses the likelihood of developing a condition in the future
Used for disorders that appear later in life
Can inform life and family planning decisions

Pharmacogenetics examines how your genes affect your body’s response to certain medications. This type of genetic test can help your doctor choose the most effective drugs and dosages for you, minimizing side effects.

Guides medication choices for better effectiveness
Helps avoid adverse drug reactions
Personalizes treatment plans based on your genetic makeup

Carrier testing is done to see if a person carries a copy of a genetic variant for a recessive disorder, such as cystic fibrosis or spinal muscular atrophy. Carriers typically do not have the condition but can pass the gene to their children.

Identifies if you are a carrier of a specific genetic disorder
Important for family planning and risk assessment
Helps prospective parents understand risks for their children

Prenatal and newborn testing are used during pregnancy and shortly after birth to detect genetic abnormalities. Prenatal testing can identify certain conditions such as Down syndrome in a fetus, while newborn screening tests for certain genetic and metabolic conditions that can be treated early to prevent serious health problems.

Screens for certain genetic conditions during pregnancy and after birth
Offers information for parents to prepare for a child’s health needs
Allows for early intervention to improve a newborn’s health outcomes

Find a doctor at INTEGRIS Health now

Next steps: Understanding your genetic health is a significant step, and our team is here to support you. From discussing the insurance and cost to explaining the results, our neurology experts provide compassionate and comprehensive care. If you are experiencing neurological symptoms, find a doctor at INTEGRIS Health today to discuss whether genetic testing is right for you.