Genetic Testing for Marfan Syndrome, Thoracic Aortic Aneurysms and Dissections, and Related Disorders
ثبت نشده
چکیده
Individual genetic testing for the diagnosis of Marfan syndrome, other syndromes associated with thoracic aortic aneurysms and dissections, and related disorders, and panels comprised entirely of focused genetic testing limited to the following genes: FBN1 and MYH11 (CPT code 81408) and ACTA2, TGFBR1, and TGFBR2 (CPT code 81405) may be considered MEDICALLY NECESSARY, when signs and symptoms of a connective tissue disorder are present, but a definitive diagnosis cannot be made using established clinical diagnostic criteria.
منابع مشابه
12.04.129 Genetic Testing for Marfan Syndrome, Thoracic Aortic Aneurysms and Dissections, and Related Disorders
Individual Gene Variant Testing Individual genetic testing for the diagnosis of Marfan syndrome, other syndromes associated with thoracic aortic aneurysms and dissections, and related disorders may be considered medically necessary when: Using established diagnostic criteria the signs and symptoms of a connective tissue disorder are present, but a definitive diagnosis cannot be made without g...
متن کاملGenetic Testing for Marfan Syndrome, Thoracic Aortic Aneurysms and Dissections, and Related Disorders
Individual genetic testing for the diagnosis of Marfan syndrome, other syndromes associated with thoracic aortic aneurysms and dissections, and related disorders, and panels comprised entirely of focused genetic testing limited to the following genes: FBN1 and MYH11 (CPT code 81408) and ACTA2, TGFBR1, and TGFBR2 (CPT code 81405) may be considered MEDICALLY NECESSARY, when signs and symptoms of ...
متن کاملGenes in Thoracic Aortic Aneurysms and Dissections - Do they Matter?: Translation and Integration of Research and Modern Genetic Techniques into Daily Clinical Practice.
Since the identification of the fibrillin-1 gene as the causal gene for Marfan syndrome, our knowledge of molecular genetics and the applicability of genetic testing in clinical practice have expanded dramatically. Several new syndromes related to thoracic aortic aneurysms and dissections (TAAD) have been described and the list of underlying genes in syndromal and nonsyndromal TAAD already incl...
متن کاملAortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections
There are many genetic syndromes associated with the aortic aneurysmal disease which include Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), Loeys-Dietz syndrome (LDS), familial thoracic aortic aneurysms and dissections (TAAD), bicuspid aortic valve disease (BAV), and autosomal dominant polycystic kidney disease (ADPKD). In the absence of familial history and other clinical findings, the p...
متن کاملNew insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections.
Since the identification of the fibrillin‑1 gene as the causal gene for Marfan syndrome, our knowledge of molecular genetics and the applicability of genetic testing for heritable thoracic aneurysms and dissections (H-TAD) in clinical practice have increased substantially. Several new syndromes related to H-TAD have been described and the list of mutated genes in syndromal and nonsyndromal H-TA...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره شماره
صفحات -
تاریخ انتشار 2017