What tests are used to diagnose a neurometabolic disorder?
Neurometabolic disorders are diagnosed first through a comprehensive exam by a doctor who has specialized training to recognize these conditions.
Based on this physical exam and your child’s medical history, a doctor at Children’s Hospital Colorado will schedule different tests to help make a specific diagnosis. These tests can include:
- Blood and urine. Many of the blood tests are genetic tests used to determine specific genes that may be causing the disorder.
- Cerebrospinal fluid testing, which requires a lumbar puncture and is usually performed under anesthesia.
- Brain imaging
- In some cases biopsies of muscle, liver or skin are required to make a diagnosis.
Why choose Children’s Hospital Colorado for neurometabolic disorder testing?
As the only neurometabolic subspecialty clinic in the region, Children’s Colorado has the extensive experience and testing capabilities to diagnose neurometabolic disorders.
How soon will we get test results?
While some results can be available within hours, most of these tests often take months to return a result due to the complicated testing methods.
How do providers at Children’s Colorado make a diagnosis?
Our specialists use the results of genetic testing, as well as the physical exam and patient history, to diagnose a neurometabolic disorder.