Webquestions about the testing, the procedure, the risks, and the alternatives. By signing this form, I authorize GeneDx to perform genetic testing as ordered. I understand that, for tests that evaluate data from multiple family members concurrently, test results from these family members may be included in a single WebMar 20, 2024 · 1 INTRODUCTION. Myotonic dystrophy type 2 (DM2), an autosomal dominant muscular dystrophy, is characterized by late-onset progressive proximal muscle weakness, myotonia, and multi-systemic features. 1, 2 DM2 results from a CCTG repeat expansion in the cellular nucleic acid binding protein (CNBP) gene, resulting in RNA gain …
Genetic Testing FAQ - Genome.gov
WebThe underlying cause of DM2 was identified in 2001 as an expanded DNA section in the ZNF9 (zinc finger 9) gene, also known as CNBP gene, on chromosome 3q 21.3. In this disorder, the expansion contains four DNA building blocks — two cytosine molecules followed by thymine and guanine (abbreviated as CCTG) — repeated far more times … WebMyotonic dystrophy type 2, one of the two types of myotonic dystrophy, is an inherited muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, and pancreas). It is characterized by prolonged muscle tensing (myotonia) as well as muscle weakness, pain, and stiffness. Signs and symptoms usually develop during a ... ribbleton hall high school
CNBP gene - MedlinePlus
WebGenetic testing for DM1 (DMPK gene) and DM2 (CNBP / ZNF9 gene) are considered ... “Indications for genetic testing: This test is often used for symptomatic confirmatory … WebApr 14, 2024 · Overview. Genetic testing involves examining your DNA, the chemical database that carries instructions for your body's functions. Genetic testing can reveal changes (mutations) in your genes that may cause illness or disease. Although genetic testing can provide important information for diagnosing, treating and preventing illness, … WebTest Description Test Code - CP002 The diagnostic odyssey for unexplained genetic disorders is a frustrating and costly process for patients and their families. Potentially unnecessary delays identifying the molecular cause of a person’s symptoms may result in missed opportunities for changes in treatment and limit inheritance information for family … redhead bubble cut barbie