Ambry Genetics Launches New Neurodevelopmental Genetic Testing


Ambry Genetics
15 Argonaut
Aliso Viejo, CA 92656

Ambry Genetics Launches New Neurodevelopmental Genetic Testing

Tiered testing provides efficient, cost-effective approach for clinicians and their patients

New test builds on Ambry’s growing menu of options for neurological conditions

Aliso Viejo, CA – January 20, 2016 – Ambry Genetics (Ambry), a leader in clinical genetic diagnostics and genetics software solutions, today announced that it is launching a new suite of five genetic tests for neurodevelopmental conditions. These can be ordered starting on January 20, and follow the launch of Ambry’s epilepsy testing in November 2015. All build on the company’s growing portfolio of neurological diagnostic solutions.

Neurodevelopmental disorders (NDDs) affect more than 4.6 million Americans,1 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.2,3,4,5  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
• ExomeNextTM and ExomeNext-RapidTM: 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.”

To receive more information about Ambry’s neurodevelopmental genetic testing offerings, please visit to complete an information request form.

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 U.S. patients covered by public and private insurers.  Ambry is both College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified.  The company leads in clinical genetic diagnostics and genetics software solutions, combining both to offer the most comprehensive testing menu in the industry. Ambry has established a reputation for sharing data while safeguarding patient privacy, unparalleled service, and responsibly applying new technologies to the clinical molecular diagnostics market. For more information about Ambry Genetics, visit  

Ambry Genetics
Humberto Huerta
Director of Marketing

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Katy Culver

1. Larson SL, et al. Prevalence of mental retardation and/or developmental disabilities: Analysis of the 1994/1995 NHIS-D. MR/DD Data Brief. Minneapolis, MN: Institute on Community Integration, University of Minnesota. 2000
2. Moeschler JB, et al. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics. 2014 Sep;134(3):903-918.
3. Miller DT, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010 May 14;86(5):749-764.
4. Schaefer GB, et al. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med. 2013 May;15(5):399-407.
5. Michelson DJ, et al. Evidence report: Genetics and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2011 Oct 25;77(17):1629-1635.

About Ambry Genetics ®

Ambry Genetics is a leader in clinical diagnostic and software solutions, combining both to offer the most comprehensive genetic testing menu in the industry. Ambry is both College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified. As part of the Konica Minolta family, Ambry is responsibly applying new technologies to the clinical molecular diagnostics market to bring about precision medicine. For more information about Ambry Genetics, visit

Press Contact:
Dina Scaglione
Director, Marketing
949 457 4355

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