Ambry Genetics Announces New Multiomic Exome Test for Improved Rare Disease Detection
19 Agosto 2024 - 8:00AM
Business Wire
ExomeReveal™ test expands Ambry Genetics’
clinical exome capabilities and applies its RNA analysis expertise
to rare disease testing
Ambry Genetics, a leader in clinical genomic testing and a
subsidiary of REALM IDx, Inc., today announced the ExomeReveal™
test, a new multiomic exome sequencing test designed to improve
rare disease detection compared with conventional DNA-based exome
sequencing. The ExomeReveal test brings Ambry Genetics’ extensive
experience in RNA analysis, honed through its hereditary cancer
testing portfolio, to its ExomeNext® exome sequencing test, to
improve diagnostic yield for rare diseases.
The term “rare disease” comprises more than 7,000 diseases
affecting fewer than 200,000 Americans each, which are collectively
believed to affect a total of 25 million to 30 million Americans.1
Exome sequencing – which interrogates the coding regions of genomic
DNA – is typically indicated for evaluation of children with
congenital birth defects, intellectual disability, and
neurodevelopmental disorders such as autism spectrum disorder and
epilepsy. The ExomeReveal test goes beyond DNA sequencing to
include RNA analysis of qualified splicing variants that cannot be
classified from DNA alone. By adding RNA functional studies, the
ExomeReveal test can resolve variants of uncertain significance and
deliver answers to more patients than standard DNA-based
testing.
“Every diagnosis matters to patients and families experiencing
the rare disease diagnostic odyssey,” said Elizabeth Chao, M.D.,
Chief Medical Officer at Ambry Genetics. “By adding RNA analysis
capabilities to our exome sequencing test, we will be able to
identify the cause of rare disease in more patients, enabling
better medical care and the potential for new treatment
options.”
The team at Ambry Genetics has extensively validated the
ExomeReveal test protocol through an early access program. Through
this testing, about 5% of exome sequencing cases were referred for
RNA analysis based on initial DNA results, and clinically
meaningful results were reported for about 1 in 50 patients.
Further, patients receiving the ExomeReveal test are automatically
enrolled in the Ambry Patient for Life™ program, which provides
another 5% of patients with answers over time based on emerging
science through continuous, laboratory-driven exome reanalysis.
“As the first company to pioneer commercial exome testing in
2011 to today, Ambry Genetics has always been on the forefront of
applying the latest scientific evidence to the identification of
genetic causes of rare diseases,” said Tom Schoenherr, Chief
Executive Officer at Ambry Genetics. “The ExomeReveal test is the
most recent example of our company’s commitment to innovation, and
our investment in providing patients with the most comprehensive
clinical genomics tests available.”
The ExomeReveal test is performed in Ambry Genetics
CAP-accredited, CLIA-certified and New York State approved
laboratory. The test is available for order and is offered at no
additional cost to the patient. For more information about clinical
exome testing from Ambry Genetics, visit
www.ambrygen.com/exome.
1 “Rare Disease Facts & Statistics,” National Organization
for Rare Disorders. Available:
https://rarediseases.org/understanding-rare-disease/rare-disease-facts-and-statistics/.
ABOUT AMBRY GENETICS®
Ambry Genetics, a subsidiary of REALM IDx, Inc., translates
scientific research into clinically actionable test results based
upon a deep understanding of the human genome and the biology
behind genetic disease. It is a leader in genetic testing that aims
to improve health by understanding the relationship between
genetics and disease. Its unparalleled track record of discoveries
over 20 years, and growing database that continues to expand in
collaboration with academic, corporate, and pharmaceutical
partners, means Ambry Genetics is first to market with innovative
products and comprehensive analysis that enable clinicians to
confidently inform patient health decisions.
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