Ambry Genetics Reports Specific Results from Clinical Diagnostic Exome™ Testing of Patients at Kennedy Krieger Institute


Ambry Genetics
15 Argonaut
Aliso Viejo, CA 92656

ALISO VIEJO, Calif., and BALTIMORE, Md. – February 29, 2012 - Ambry Genetics, a global leader in genetic services with a focus on clinical diagnostics and genomics, announces specific results from one of three recent diagnoses using its proprietary new Clinical Diagnostic Exome™.  Four individuals with rare genetic conditions for which the cause could not previously be identified were successfully diagnosed, three at Kennedy Krieger Institute in Baltimore and one at a large, Ivy League-affiliated university hospital in New York City

One of the cases at Kennedy Krieger Institute involves two brothers, ages 22 and 24, with profound intellectual disability and autism.  The actual cause of their condition was unknown for over 20 years.  Ambry Genetics’ Clinical Diagnostic Exome test revealed that their condition is a form of autosomal recessive intellectual disability precisely caused by mutations in the ELP2 gene.  Because this gene was only recently discovered and routine testing was not available, this diagnosis would have been impossible to identify without exome sequencing.

The majority of genetic diseases are caused by mutations located in the exons, which are the regions of genes that code for protein.  Exons make up about 1.5% of the genome, which in total consists of over 20,000 genes.  Traditional genetic testing analyzes only one or a few specific genes at a time.  In contrast, exome sequencing is a much broader test targeting the exons of nearly all genes.  Ambry Genetics believes that exome sequencing will be much more useful in quickly identifying the causes of a wide range of genetic disorders that previously have gone undiagnosed

 “We are the first CLIA-certified lab to offer whole exome sequencing, and moreover are the first to deliver actionable results from an exome test, as demonstrated with these results,” said Charles Dunlop, chief executive officer of Ambry Genetics. “However, this is just the beginning.  We stand ready to solve medical mysteries for clinicians, and to bring relief to patients and their caregivers who may be suffering from conditions of unknown cause and origin.  Our Clinical Diagnostic Exome test is now available to clinicians and their patients across the country, and is already covered by some national health insurance carriers.  Having helped three families in these initial cases, we are eagerly anticipating helping many more.”

“We are most pleased to be able to share these patient-specific results from the Clinical Diagnostic Exome,” said Elizabeth Chao, M.D., assistant medical director of Ambry Genetics. “We are looking forward to documenting them, further, and conducting additional Clinical Diagnostic Exome tests, in coming months.”

“It was extremely rewarding and exciting to share these results with the families,” added Julie Cohen, Sc.M., C.G.C, genetic counselor at Kennedy Krieger Institute. “This is a great leap forward for clinical diagnostics and opens the door to hopefully help many clinicians find answers for the patients and caregivers who desperately need them.”  

About the Ambry Genetics Clinical Diagnostic Exome™

Ambry Genetics is the first CLIA-certified laboratory to offer whole exome sequencing for clinical diagnostics.  To date, underlying causative genes have been discovered for fewer than half of all monogenic disorders, making the Clinical Diagnostic Exome a powerful tool to help diagnose affected patients whose conditions have eluded traditional diagnostic approaches. Exome sequencing also provides a highly effective, cost- and time-saving method to diagnosis genetic diseases that are associated with multiple genes for which limited testing and/or no comprehensive panels are available.  More information is available at

About Kennedy Krieger Institute

Internationally recognized for improving the lives of children and adolescents with disorders and injuries of the brain and spinal cord, the Kennedy Krieger Institute in Baltimore, MD serves more than 16,000 individuals each year through inpatient and outpatient clinics, home and community services and school-based programs. Kennedy Krieger Institute provides a wide range of services for children with developmental concerns mild to severe, and is home to a team of investigators who are contributing to the understanding of how disorders develop while pioneering new interventions and earlier diagnosis. For more information on Kennedy Krieger Institute, visit

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

Search Results

Start your search...