Panel

ACVR1 Sequencing COL10A1 Sequencing COL1A1 Sequencing COL1A2 Sequencing COL3A1 Sequencing COL4A1 Sequencing COL4A2 Sequencing FBN1 Sequencing NGS Aorta and arterial dilatation/dissection NGS Aorta and mitralis valve defects NGS Arthrogryposis NGS BAP1 – HCS panel NGS Cutis laxa and related disorders NGS Ehlers-Danlos syndromes NGS Lens luxation and related syndromes NGS Linkeropathies and EDS-related disorders NGS Marfan syndrome and marfan-like disorders NGS Osteogenesis imperfecta and related disorders NGS Stickler syndrome and related disorders