Skip to main content

Neurometabolic and neurodevelopmental disorders

Bring biochemical and genetic insights together

Access a broad testing portfolio designed to support the investigation of complex neurological conditions and help guide appropriate next steps.
Bring biochemical and genetic insights together

Neurometabolic and neurodevelopmental conditions can be complex to evaluate, with testing needs that vary based on the patient’s presentation and suspected underlying cause.

Quest Diagnostics offers biochemical and genetic testing to support evaluation of inborn errors of metabolism, developmental delay, autism spectrum conditions, and other complex neurological presentations.

Because these conditions can involve overlapping developmental, neurological, and metabolic findings, a broader testing approach can help clinicians investigate potential causes and determine appropriate next steps.

Testing across metabolic and developmental conditions

Early identification of an underlying genetic cause can help inform appropriate care for children with developmental delay, autism spectrum disorders, and congenital anomalies.

Quest offers the following tests

  • Chromosomal microarray analysis (CMA), a guideline-supported, first-line genetic test that uses advanced array technology to detect clinically significant chromosomal changes. With strong technical performance and one of the fastest turnaround times available, CMA can help clinicians move more quickly from evaluation to informed next steps.

  • Whole exome sequencing (WES), which provides a broader genetic assessment across thousands of genes and can help identify an underlying cause in neurodevelopmental conditions, congenital anomalies, complex presentations, or inconclusive previous genetic testing.

Inborn errors of metabolism occur when a genetic defect disrupts the body’s metabolic pathway, causing conditions such as vitamin deficiencies, organic acidemia, and peroxisomal disorders.

Because treatment needs can change over time, ongoing monitoring is critical to help avoid the risks of both undertreatment and overtreatment. Quest provides a comprehensive test menu and expertise from genetic counselors to help clinicians manage IEM-related challenges

Why order neurometabolic and neurodevelopmental testing from Quest

Quest brings together biochemical and genetic testing to support evaluation of complex metabolic and developmental conditions. With broad testing capabilities, reflex pathways, and access to expert interpretation, Quest can help clinicians navigate challenging presentations and move toward clearer answers.

Support for complex cases

Connect with your Quest representative to discuss testing approaches for neurometabolic and neurodevelopmental disorders.

Please remember that email, including this web form, is not a secure method of communication. Do not submit personal information, including user names and passwords, social security numbers, or personal health information through this form.

920

* indicates required