• By Shuwei Li
  • Posted August 21, 2018

Science In 60: Tumor Characteristics Provide Evidence for Mismatch Repair Variant Pathogenicity

It is estimated that as many as 1 in 300 people may carry a gene mutation associated with Lynch syndrome. This is important to know because Lynch syndrome also puts individuals at a higher risk for many other cancers including colon, uterine, ovarian, pancreatic, stomach, liver and bladder cancer. The good news is genetic testing can determine …


  • By Rhonda Lassiter
  • Posted August 10, 2018

Science in 60: Attacking a VUS from Multiple Angles

Neurodevelopmental disorders (NDDs) involve a wide range of symptoms and severity. Individuals may present with multiple indications including epilepsy, autism, intellectual disability, developmental delay, dysmorphic features, and other congenital anomalies. The broad and nonspecific nature of NDDs can lead to significant diagnostic challenges. Multi-gene …


  • By Deepti Babu, MS, CGC
  • Posted June 7, 2017

Improve Patient Care by Reducing Ambiguity in Gene-Disease Relationships

New discoveries are rapidly expanding our understanding of the human genome, and diagnostic laboratories use different approaches to interpret this knowledge. A challenge for laboratories is translating vast amounts of published evidence to determine the clinical validity of gene-disease relationships, which need to be integrated into a patient’s …


  • By Jackie Connor
  • Posted March 30, 2017

Dr. Rachid Karam Discusses Variant Classification at 2017 ACMG Annual Meeting

Actionable medical results are often a key component in deciding a patient’s medical management and specialized treatment options. However, some genetic test results can have unclear implications or Variants of Unknown Significance (VUS), which can often affect a clinician’s medical management plans for their patients. During the 2017 ACMG …


  • By Jackie Connor
  • Posted March 2, 2017

RNA Labs—How they Impact the Medical World

Ribonucleic Acid, otherwise known as RNA, is the messenger that carries instructions for controlling the synthesis of proteins from Deoxyribonucleic Acid (DNA). The central dogma of molecular biology states that “DNA makes RNA makes protein."  However, for the proteins, which are the final product, to work properly, the RNA needs to be “edited," …