1. Name of the Disease (Synonyms):
Aortic aneurysm, familial thoracic (AAT); aneurysm, thoracic aortic; aortic dissection, familial; thoracic aortic aneurysm and dissection, familial; Alport syndrome, X-linked (ATS); aortic valve disease 1 (AOVD1); bicuspid aortic valve; arterial tortuosity syndrome (ATS); contractural arachnodactyly, congenital, Beals syndrome (CCA); cutis laxa, autosomal dominant 1 (ADCL1); cutis laxa, autosomal recessive, type 1B (ARCL1B); Ehlers–Danlos syndrome, classical type/type I (EDS I); Ehlers–Danlos syndrome, classical type/type II (EDS II); Ehlers–Danlos syndrome, vascular type/type IV (EDS IV); Ehlers–Danlos syndrome, kyphoskoliotic type/type VI (EDS VI); Ehlers–Danlos syndrome, arthrochalasic type/type VIIA (EDS VIIA); familial thoracic aortic aneurysm and aortic dissection; Furlong syndrome (FS); heterotopia, periventricular, Ehlers–Danlos variant (PVNH4); juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT); Loeys–Dietz syndrome type 1 (LDS1/AAT5); Loeys–Dietz syndrome type 2, Marfan syndrome type 2 (LDS2/MFS2/AAT3); Loeys–Dietz syndrome type 3, Aneurysm osteoarthritis syndrome (LDS3/AOS); Loeys–Dietz syndrome type 4 (LDS4); Marfan syndrome (MFS); Moyamoya disease 5 (MYMY5); Shprintzen–Goldberg craniosynostosis syndrome (SGS).
2. OMIM# of the Disease:
109730, 121050, 123700, 130000, 130010, 130010, 130050, 130060, 132900, 154700, 175050, 182212, 208050, 225400, 300537, 301050, 609192, 610168, 611788, 613780, 613795, 614042, 614437, 614816, 615436.
3. Name of the Analysed Genes or DNA/Chromosome Segments:
ACTA2, COL1A1, COL3A1, COL4A5, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, FLNA, GATA5, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2.
4. OMIM# of the Gene(s):
102620, 120150, 120180, 120190, 120215, 130160, 134797, 153454, 160745, 164780, 176894, 190181, 190182, 190198, 190220, 190230, 300017, 303630, 600922, 600993, 601103, 601468, 603109, 604633, 606145, 611496, 612570.
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing in diagnostic, predictive and prenatal settings and for risk assessment in relatives.
