ALISO VIEJO, Calif.--(BUSINESS WIRE)--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.

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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..

ExomeReveal测试将Ambry Genetics在RNA分析方面的丰富经验（通过其遗传性癌症测试组合磨练）引入其ExomeNext®外显子组测序测试，以提高罕见疾病的诊断率。。

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.

“罕见病”一词包括7000多种疾病，每种疾病影响不到20万美国人，据信总共影响2500万至3000万美国人。1外显子组测序-询问基因组DNA的编码区-通常用于评估先天性先天缺陷，智力残疾和神经发育障碍（如自闭症谱系障碍和癫痫）的儿童。

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..

ExomeReveal测试超出了DNA测序的范围，包括对无法单独从DNA中分类的合格剪接变体的RNA分析。通过添加RNA功能研究，ExomeReveal测试可以解决不确定意义的变体，并比标准的基于DNA的测试为更多患者提供答案。。

“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.”.

Ambry Genetics首席医学官ElizabethChao医学博士说：“每一个诊断都对经历罕见疾病诊断之旅的患者和家庭至关重要。”。“通过将RNA分析功能添加到外显子组测序测试中，我们将能够确定更多患者罕见疾病的病因，从而实现更好的医疗保健和新治疗选择的潜力。”。

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.

Ambry Genetics的团队通过早期访问程序广泛验证了ExomeReveal测试方案。通过此测试，根据最初的DNA结果，约5%的外显子组测序病例被转介进行RNA分析，据报道，约50名患者中有1名具有临床意义。

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..

此外，接受ExomeReveal测试的患者将自动参加Ambry Patient for Life™计划，该计划通过持续的实验室驱动的外显子组再分析，根据新兴科学，随着时间的推移，为另外5%的患者提供了答案。。

“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.”.

Ambry Genetics首席执行官汤姆·肖恩海尔（TomSchoenherr）表示：“作为2011年至今第一家率先进行商业外显子组检测的公司，Ambry Genetics一直处于将最新科学证据应用于鉴定罕见疾病遗传原因的最前沿。”。“ExomeReveal测试是我们公司致力于创新的最新例子，也是我们为患者提供最全面的临床基因组学测试的投资。”。

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..

ExomeReveal测试在Ambry Genetics CAP认证，CLIA认证和纽约州批准的实验室进行。该测试可供订购，患者无需额外费用。有关Ambry Genetics临床外显子组测试的更多信息，请访问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/.

1“罕见疾病事实与统计”，国家罕见疾病组织。可用：https://rarediseases.org/understanding-rare-disease/rare-disease-facts-and-statistics/.

ABOUT AMBRY GENETICS®

关于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.

Ambry Genetics是REALM IDx，Inc.的子公司，它基于对人类基因组和遗传疾病背后生物学的深入了解，将科学研究转化为临床可行的测试结果。它是基因检测领域的领导者，旨在通过了解遗传与疾病之间的关系来改善健康。

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..

其20多年来无与伦比的发现记录，以及与学术，企业和制药合作伙伴合作不断扩大的不断增长的数据库，意味着Ambry Genetics率先推出创新产品和全面分析，使临床医生能够自信地告知患者健康决策。。