Helping Healthcare Providers, Children, and Families Navigate Neurodevelopmental Disorders with Genetic Testing
For patients and families facing neurodevelopmental disorders, genetic testing is a critical step in the diagnostic journey. Given neurodevelopmental disorders (NDDs) are among the most common chronic medical conditions in pediatric primary care, identifying diagnoses and counseling families to the most appropriate evidenced-based, personalized care is a high priority for healthcare providers.
Diagnosing Neurodevelopmental Disorders
Neurodevelopmental disorders are multi-faceted conditions characterized by impairments in cognition, communication, behavior, and/or motor skills. These conditions and can range from mild impairments to severe disorders requiring lifetime care. Although these disorders, disabilities, and delays are – for the most part – clinically diagnosed, discovering genetic causes can reveal associated conditions that may affect the patient’s prognosis, management, and treatment.
Most NDD indicators lead families and providers to Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) because of the comprehensiveness of these tests. WES assesses the set of all exons (protein-coding sections within genes) within the human genome. Most genetic conditions are caused by variants found within these exons. Indications for WES testing includes autism spectrum disorders (ASD), developmental delay (DD), intellectual disability (ID), and other NDDs.
Unlike WES and chromosomal microarray analysis, which only detect specific types of disease-causing variants, WGS assesses most of the human genome and is widely considered for symptomatic patients lacking a sufficient personal or family history to suggest a specific genetic (or non-genetic) cause.
While tests like WES and WGS can help identify all disease-causing genetic variations, targeted panel testing can serve as an alternative option based on patient and provider needs.
Helping Patients and Families Get Answers That Matter
In addition to WES and WGS, Baylor Genetics’ new Neurodevelopmental Disorders Panel is designed for patients affected by a suspected or clinically diagnosed NDD, ASD, ID, and/or DD. This panel analyzes 236 genes associated with these conditions enabling robust detection of SNVs, INDELs, and CNVs at exceptional read depths.
The variants – curated from Baylor Genetics’ extensive database which consists of over 40 years of genetic and genomic data – are classified based on population data, clinical evidence, and theoretical and function evidence. With an average turnaround time of 21 days, Baylor Genetics leans on its team of experienced scientists and genetic counselors who carefully curate each test to ensure accuracy, relevancy, and completeness with counselors available to assist with result interpretation and reporting on the back end as well.
The overall goal is to end the diagnostic journey for patients and their families and provide more timely, actionable, trustworthy information that better informs the prognosis and treatment plan.
For more details on the Baylor Genetics Neurodevelopmental Panel, including the full list of genes, click here. Learn more about Baylor Genetics’ test offerings, including WGS and WES, at BaylorGenetics.com.
Sources:
https://pubmed.ncbi.nlm.nih.gov/33681094/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4030327/
https://www.cdc.gov/ncbddd/developmentaldisabilities/facts-about-intellectual-disability.html
