Genetic testing in Marfan syndrome
نویسندگان
چکیده
منابع مشابه
Preimplantation Genetic Diagnosis in Marfan Syndrome
Marfan syndrome (MFS) is a systemic hereditable disorder of the connective tissue with mainly cardiovascular manifestations, such as aortic dilatation and dissection. We describe a case of a 32-year-old Caucasian woman, clinically asymptomatic with MFS who presented for genetic consultation to prevent the transmission of disease to her offspring. She underwent controlled ovarian stimulation (CO...
متن کاملDIFFUSE ARTER IAL ECTASIA IN MARFAN SYNDROME
A 22 year old male referred with palpitation. General appearance and physical exam impressed us in that the patient has Marfan syndrome. Cardiac catheterization showed diffuse arterial ectasia. We found no previous report of this generalized diffuse ectasia.
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 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 کامل12.04.129 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...
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ژورنال
عنوان ژورنال: British Journal of Hospital Medicine
سال: 2016
ISSN: 1750-8460,1759-7390
DOI: 10.12968/hmed.2016.77.1.38