The Genetic Test Evaluation program is a compilation of evidence-based assessments of genetic tests that provide clinicians with a clear,
objective view of the science behind genetic tests, the clinical evidence supporting them, and the use of these tests in clinical practice.
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RNA sequencing has been proposed as a method to identify genetic variants and select candidate variants that may be associated with any kind of genetic disorder. This approach evaluates genetic variants in messenger RNA (mRNA), the intermediate molecule that enables information from the coding DNA sequence to be translated into protein. RNA sequencing can detect the presence of different mRNA molecules (isoforms) produced as a result of variation in regulatory sequences as well as quantify gene expression levels. The sequencing of all mRNA molecules in a particular tissue at a particular time is called transcriptome sequencing. This synopsis specifically focuses...
This report evaluates the clinical utility of genetic testing for autism spectrum disorder (ASD) to independently diagnose and improve outcomes in children younger than 5 years of age with suspected but not yet clinically diagnosed ASD.
An estimated 5% to 10% of all cancers result directly from gene defects passed down from generation to generation, often referred to as heritable cancers. While the presence of a germline variant associated with a heritable cancer syndrome does not guarantee a cancer diagnosis, an individual carrying a heritable cancer gene variant is at an increased lifetime risk for cancer. This Synopsis specifically focuses on the Counsyl Reliant Cancer Screen panel test. This Synopsis does not evaluate the evidence for germline cancer gene panel testing, in general, or specific gene associations.
Genetic Testing to Aid in the Diagnosis of Myeloproliferative Neoplasms (MPNs) in Patients Presenting with Splanchnic Vein Thrombosis (SVT)June 22, 2018 Genetic Test Evaluation
This report evaluates the clinical utility of genotyping calreticulin (CALR), Janus kinase 2 (JAK2), and thrombopoietin receptor (MPL) gene variants to aid in the diagnosis of myeloproliferative neoplasms (MPNs) in patients presenting with splanchnic vein thrombosis (SVT).
This report evaluates the clinical utility of genetic testing for inflammatory bowel disease (IBD) for individuals with known or suspected IBD or asymptomatic individuals with a family history of IBD.