- By Carrie Horton, MS, CGC
- Posted October 3, 2018
Science In 60: Looking Beyond BRCA 1/2 to Identify Women at Risk for Breast Cancer
The adoption of multi-gene panel testing (MGPT) has been a game changer in the hereditary breast cancer arena. As evidence surrounding the growing number of breast cancer predisposition genes has accumulated, ATM, CHEK2, and PALB2 have stood out and become undisputed susceptibility genes conferring a moderate risk for…
- 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.…
- By Aaron Schmidt
- Posted February 12, 2018
Science in 60 - Genetic Testing and Familial Hypercholesterolemia - (FH)
Editor’s Note: Science in 60 is a new video series from Ambry in which our researchers will give a brief overview of how genetic testing can help everyone understand disease. In this inaugural segment, Ambry genetic counselor Tami Johnston, MS CGC, looks at how genetic testing can improve the diagnoses and treatment plans for patients with…