Pathogenic Variants News Today

Over 40% of cases curated based on stringent clinical and laboratory criteria from the Indian subcontinent have an inherited iron metabolism defect on comprehensive genomic evaluation, report investigators in The Journal of Molecular Diagnostics.

Young breast cancer survivors without a specific genetic mutation have a lower risk of developing second primary breast cancer within 10 years of diagnosis.

– First-of-its-kind authorization provides potential marketing differentiation and opportunities for largest testing category – – Testament to Invitaes product and lab quality –  – Sets...

In this third episode of OncChats: Understanding Lynch Syndrome and Cancer Risk, Fay Kastrinos, MD, MPH, discusses testing guidance for identifying Lynch syndrome.

In this second episode of OncChats: Understanding Lynch Syndrome and Cancer Risk, Fay Kastrinos, MD, MPH, delves into the epidemiology of Lynch syndrome, the pathogenic variants in the mismatch-repair genes that cause the condition, and criteria utilized to identify it.

Receiving a rare disease diagnosis after genetic testing can be overwhelming. You may feel relief that you finally have a name for the disease. At the same time, you could be fearful, grieving, angry, or shut down. Here are questions to ask when you are diagnosed with a rare disease

Receiving a rare disease diagnosis after genetic testing can be overwhelming. You may feel relief that you finally have a name for the disease. At the same time, you could be fearful, grieving, angry, or shut down. Here are questions to ask when you are diagnosed with a rare disease

If you receive a negative or uninformative result from your genetic test, don’t lose hope. A “non-diagnosis” can help rule things out, redirect your path, and determine next steps.