Neurogenetic Diagnostic Clinic

We provide compassionate care for children with neurogenetic disorders to help them live their best lives. In our clinic, we provide diagnostic evaluations and guide families to the best care options for undiagnosed neurogenetic disorders.

About the Neurogenetic Diagnostic Clinic

In the Neurogenetic Diagnostic Clinic, we provide neurogenetic evaluations and may recommend genetic testing for children with neurological symptoms we suspect are caused by changes in the patient’s DNA. We also provide care, management recommendations and resources to patients with known neurogenetic disorders for which there is no diagnosis-specific clinic available.

Since 2011, our multidisciplinary team has provided comprehensive care through clinical evaluation, diagnostic work-ups and, when available, access to disease-modifying treatments for neurogenetic disorders in children. Our team includes board-certified genetic counselors, a clinical geneticist and pediatric neurologists. We support children and their families with medical care, counseling and education to help provide the best possible quality of life.

Why choose us for neurogenetic disorder care?

We offer the only pediatric clinic for neurogenetic disorders in the Rocky Mountain region. Our team has extensive experience using the latest technologies for diagnosing and treating these complex conditions. Our doctors provide a compassionate approach to caring for children and their families as they cope with neurogenetic disorders.

We also give families the opportunity to participate in research and clinical trials that work to improve diagnosis and treatments. Your child may receive the latest, most advanced tests and treatments, which aren’t widely available.

Who we treat at the Neurogenetic Diagnostic Clinic

We diagnose children and teens with neurogenetic disorders and provide care in our clinics specific to each neurogenetic syndrome. Neurogenetic disorders are conditions caused by changes in genes and chromosomes that affect the brain, spinal cord, nerves and muscles.

Although these conditions have genetic causes, not all of them are inherited (passed down in families). Signs of neurogenetic disorders may appear at birth or later in life and can occur randomly.

Your visit to the Neurogenetic Diagnostic Clinic 

Before your visit, our team reviews your child’s health records (including records from neurology, developmental pediatrics, genetics and imaging). When you and your child arrive, you’ll  meet with a medical genetics provider who will review your child's medical history and gather other details.

Our entire team will then meet with you and your child to do a physical exam, discuss more details and answer your questions. Based on the medical history and physical exam, we provide recommendations for next steps, which may include more testing or a treatment plan.

Based on your child’s diagnosis, we may offer care in one of our individual subspecialty clinics. We have numerous clinics designed to care only for children with one type of neurogenetic syndrome, so your child gets exactly the care and expertise for their unique needs. We may also recommend a different care plan based on your family’s needs.

What happens after a visit to the Neurogenetic Diagnostic Clinic?

After your visit:

• Our providers will send you and your child’s primary care provider a letter with detailed recommendations for additional tests and treatment.
• Our genetic counselors will work with you and your child’s provider to complete the recommendations, and we will help you get insurance approval, if required.
• Our genetic counselors will discuss details of the condition with you, including genetic information. We also discuss the risk for future pregnancies and can help identify other family members who may be at risk.
• We provide support for your family and help you find available resources in the community.

Contact the Neurogenetic Diagnostic Clinic

To learn more about the Neurogenetic Diagnostic Clinic on Anschutz Medical Campus or make an appointment, you or your child’s primary care provider can call us at 720-777-5061.