Connective tissue diseases: Ehlers-Danlos syndrome, Marfan syndrome, Lois-Dietz syndrome, thoracic aortic aneurysm and related disorders.
Material: 1-2 ml of blood EDTA or 1-2 µg of genomic DNA
€1,400.00
Differentiated connective tissue dysplasias (hereditary collagenopathies) are genetically determined conditions characterized by defects in fibrous structures and the basic substance of connective tissue, leading to disorder in the formation of organs and systems.
Gene set: ABCC6, ACTA2, ACVR1, ADAMTS2, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, B3GALT6, B4GALT7, BGN, C1R, C1S, CBS, CHST14, COL1A1, COL1A2, COL5A1 COLFA1, COL5A1 FBN1, FBN2, FKBP14, FOXE3, GORAB, LOX, LTBP4, MFAP5, MYH11, MYLK, PLOD1, PRDM5, PYCR1, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR1, TGFBR1, TGFBR1, TGFBR1
