Neurogenetic Disorders: Tests and Diagnosis

What tests are used to diagnose neurogenetic conditions?

Neurogenetic disorders (such as uncontrollable epilepsy and brain malformations) are diagnosed first by a comprehensive evaluation by a specialized doctor who has extra training to recognize these conditions. Based on these findings, different tests are used to make a specific diagnosis. These tests can include:

  • Blood, urine and cerebrospinal fluid testing. Many of the blood tests are genetic tests to determine if a child has specific genes that are known to cause neurogenetic conditions.
  • Cerebrospinal fluid testing requires a lumbar puncture, usually performed under anesthesia.
  • Brain imaging
  • Biopsies of muscle, liver or skin

Why choose Children’s Colorado for neurogenetic disorder testing?

As the only neurogenetic subspecialty clinic in the multi-state area, Children’s Colorado has the extensive experience and testing capabilities to diagnose pediatric neurogenetic conditions.

What should you expect from a neurogenetic condition test?

While some results can be available within hours, many of these tests often take months to return a result, due to the complexity of testing and analysis.

How do providers at Children’s Hospital Colorado make a diagnosis?

A diagnosis is made based on clinical findings and the results of your child’s tests.