Ambry Genetics (Ambry), a leader in clinical genetic diagnostics and genetics software solutions, has launched a new suite of five genetic tests for neurodevelopmental conditions.
Neurodevelopmental disorders (NDDs) affect more than 4.6 million Americans, and include a range of conditions associated primarily with the functioning of the brain and neurological system. These include developmental delays, intellectual disability (ID), and autism spectrum disorders (ASDs).
“Neurodevelopmental disorders are generally difficult to subtype,” said Michael Raff, MD, a medical geneticist at the Mary Bridge Children's Health Center in Tacoma, WA. “Ambry has offered their well-regarded tiered testing for making a specific diagnosis, enabling physicians to choose the best diagnostic approach for each affected individual.”
Disorders of the central nervous system can significantly affect learning, behavior, and emotions, and often develop as a child grows. In many cases, genetic testing may help identify an underlying cause, which is why leading medical associations recognize the importance of genetic testing for all children with ID and ASDs. Ambry’s diagnostic options incorporate this scientific evidence, offering a unique tiered approach with the option of starting with targeted tests and moving to broader options.
Ambry’s new tests include: IDNext: a broad panel of 140 genes known to be associated with both syndromic and non-syndromic ID; AutismFirst: a targeted panel of 16 genes recognized by the American College of Genetics and Genomics (ACMG) as associated with syndromic ASDs; AutismNext: a broader panel of 48 genes that can cause both syndromic and non-syndromic ASDs; Neurodevelopment-Expanded: a broad panel of 196 genes designed for patients who have a combination of ID, ASDs, and epilepsy; Rett/AngelmanNext: a panel of 22 genes known to cause symptoms of multiple overlapping neurodevelopmental disorders, including Rett syndrome and Angelman syndrome
Ambry’s new options enhance the company’s existing neurodevelopmental menu, which includes: Chromosomal microarray: assesses for genetic imbalances that can cause ID, ASD, and epilepsy; Fragile X-associated disorders: identifies mutations in a single gene (FMR1) associated with ASDs, behavioral changes, and cognitive impairment; PTEN-related disorders: detects mutations causing ASDs in conjunction with macrocephaly; ExomeNext and ExomeNext-Rapid: clinical diagnostic exome sequencing that analyzes up to 20,000 genes concurrently; can be beneficial for patients with NDDs who have had prior uninformative results with symptom-specific genetic testing.
“At Ambry, we are building a portfolio of neurological genetic testing options, starting with epilepsy and now NDDs, which offer healthcare providers flexibility. We recognize that testing needs differ for patients,” said Amanda Bergner, MS, CGC, senior neurology product manager at Ambry. “Neurodevelopmental disorders can be challenging to diagnose because symptoms often overlap and are not specific to any one NDD. We are proud to offer this new product line to provide clinicians with more tools to arrive at an accurate diagnosis, and look forward to continually expanding our neurology testing menu.”
Ambry Genetics is a privately-held healthcare information company with the most comprehensive suite of genetic testing solutions for inherited and non-inherited diseases. Since 1999, Ambry has tested approximately half a million patient samples benefiting 90% of all US patients covered by public and private insurers.