{"type":"rich","version":"1.0","provider_name":"Transistor","provider_url":"https://transistor.fm","author_name":"Answers from the Lab","title":"CYPZ: Michelle Kluge, M.S., CGC","html":"<iframe width=\"100%\" height=\"180\" frameborder=\"no\" scrolling=\"no\" seamless src=\"https://share.transistor.fm/e/5b4094fc\"></iframe>","width":"100%","height":180,"duration":1029,"description":"Michelle Kluge, M.S., CGC, discusses Mayo Clinic Laboratories' in-depth molecular genetic testing for congenital adrenal hypoplasia. The most common form of this inherited autosomal recessive condition is caused by pathogenic variants in the CYP21A2 gene. MCL's approach avoids the limitations of standard next generation sequencing assays, allowing for a detection rate of greater than 99% for patients with a clinical diagnosis of 21-hydroxylase deficient CAH. ","thumbnail_url":"https://img.transistorcdn.com/jhRCftFebxnTMwoIbA_WoqrSKwFRD_Y2kbh0JDjhx14/rs:fill:0:0:1/w:400/h:400/q:60/mb:500000/aHR0cHM6Ly9pbWct/dXBsb2FkLXByb2R1/Y3Rpb24udHJhbnNp/c3Rvci5mbS9lYjNj/ZDc0NTE0MWNlOWRl/YzRiN2Q3NDg2Mjg5/YWE4MS5qcGc.webp","thumbnail_width":300,"thumbnail_height":300}