Most people will experience hormonal imbalances at some point in life. Hormone tests, such as the hormone blood test, are used to diagnose the specific hormones that are imbalanced. Hormones are chemical messengers that are produced by endocrine glands and released into the bloodstream. They control a range of crucial bodily functions. Therefore, even small…
Read MoreClaritas Genomics’ flagship test is the Claritas Clinical Exome (the “CCE”), a whole exome sequencing test that is ordered by physicians to help identify the underlying molecular cause(s) of a patient’s clinical symptoms. In the past, genetic testing focused on analyzing just one gene at a time; in comparison, the CCE provides information about all…
Read MoreOur Clinical Interpretation Practices – Next Generation Sequencing Assays Clinical interpretation of next generation sequencing testing is complex and requires specific expertise. The below information provides an overview of Claritas Genomics’ Next-Generation Sequencing (NGS) interpretation practices for our clients. Clinical phenotyping and variant reporting: Claritas reports variants in selected genes based on either the gene…
Read More«Ортогональный подход» максимизирует полноту и точность тестов Claritas Clinical Exome и Areas of Interest. Результатом является интерпретация с самым высоким разрешением и лучшие подтвержденные результаты, доступные на сегодняшний день. Образец ДНК обрабатывается с использованием двух независимых методов захвата и секвенирования ДНК на платформе Illumina Next-Seq™, а затем подтверждается в системе LIFE Ion Torrent™. Это означает,…
Read MoreWhat is Sanger sequencing? First described by Frederick Sanger and colleagues in 1977, Sanger sequencing was the most widely used DNA sequencing method for over 25 years. The basic building block of DNA is the nucleotide. The nucleotide consists of one of four nitrogenous bases, Adenine (A), Cytosine (C), Guanine (G) or Thiamine (T), a…
Read MoreAs part of our mission to partner with health care providers to improve patient care, Claritas Genomics is deeply committed to creating resources that further our community’s knowledge about genetics and genomics. Check back often as our content will continue to grow. Click on these links to be directed to pages with additional scientific content…
Read MorePublications authored by our researchers: Somatic mutations in cerebral cortical malformations. Jamuar SS, Lam AT, Kircher M, D’Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y,…
Read MoreWhat is a variant? A variant is any difference in an individual’s DNA sequence when compared to a reference sequence. Variants can range from changes involving just one or a few base pairs (a substitution of one single DNA base letter for another, for example), to alterations involving long stretches of DNA (deletion of an…
Read MoreGenetic Disorders and Genetic Testing You may be visiting this page because your health care provider suspects that you or your child has a genetic disorder. This can be a frightening prospect. Arming yourself with knowledge about the new terminology you’re encountering can be helpful. The goal of the educational pages on this website is…
Read MoreTim Yu Next-Generation Human Genomics 2013 Tim Yu NSGC Keynote 2013 Patrice Milos BioConference Live August 2013 Yiping Shen ACMG 2014 Video- Patrice Milos Claritas Genomics: The Future of Pediatric Diagnostics is Now Video- Elizabeth Boudreau discusses using Amazon Web Services to improve Claritas’s operational efficiency
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