Browse CTGT's catalogue of connective tissue tests, including NGS panels, by gene.
Cleft lip, cleft palate and related disorders NGS panel | |
Glass syndrome |
Skeletal dysplasia and skeletal ciliopathy NGS panel | |
Skeletal dysplasia core & extended NGS panel | |
Skeletal dysplasia extended NGS panel | |
Spondylo-Epi-Metaphyseal dysplasias NGS panel |
Charcot-Marie-Tooth disease NGS panel |
Charcot-Marie-Tooth disease NGS panel |
Nephrotic syndrome and related disorders NGS panel |
Brugada syndrome and related disorders NGS panel | |
Cardiac channelopathy NGS panel |
Atrial fibrillation NGS panel | |
Atrioventricular block NGS Panel | |
Brugada syndrome and related disorders NGS panel | |
Cardiac channelopathy NGS panel |
Atrial fibrillation NGS panel | |
Brugada syndrome and related disorders NGS panel | |
Cardiac channelopathy NGS panel |
Atrial fibrillation NGS panel | |
Brugada syndrome and related disorders NGS panel | |
Cardiac channelopathy NGS panel |
Atrial fibrillation NGS panel | |
Cardiac channelopathy NGS panel | |
Long QT syndrome NGS panel |
Nephronophthisis and related disorders NGS panel |
Cole-Carpenter syndrome 2 | |
Cole-Carpenter syndrome NGS panel | |
Osteogenesis imperfecta NGS panel - Dominant & Recessive | |
Osteogenesis imperfecta NGS panel - Recessive |
Hyperuricemic nephropathy, familial juvenile NGS panel | |
Polycystic kidney disease and related disorders NGS panel |
Polycystic liver disease NGS panel |
Brugada syndrome and related disorders NGS panel | |
Cardiac channelopathy NGS panel |
Epidermolysis bullosa NGS panel | |
Ichthyosis NGS panel | |
Peeling skin syndrome NGS panel |
Osteogenesis imperfecta NGS panel - Dominant & Recessive | |
Osteogenesis imperfecta NGS panel - Recessive | |
Osteogenesis imperfecta, type VI |
Osteogenesis imperfecta NGS panel - Dominant & Recessive | |
Osteogenesis imperfecta NGS panel - Recessive | |
Osteogenesis imperfecta, type X |
Overgrowth syndrome NGS panel |
Amyotrophic lateral sclerosis and related disorders NGS panel | |
Distal hereditary motor neuropathy and related disorders NGS panel |
Acrofacial dysostosis 1, Nager type | |
Treacher Collins syndrome and related disorders NGS panel |
Limb girdle muscular dystrophy NGS panel |
Limb girdle muscular dystrophy NGS panel |
Limb girdle muscular dystrophy NGS panel |
Limb girdle muscular dystrophy NGS panel |
Nephrotic syndrome and related disorders NGS panel |
Mucopolysaccharidosis NGS panel |
Charcot-Marie-Tooth disease NGS panel |
Noonan spectrum disorder NGS panel | |
Noonan syndrome core NGS panel |
Langer mesomelic dysplasia | |
Leri-Weill dyschondrosteosis | |
Short stature, idiopathic, X-linked |
Amyotrophic lateral sclerosis and related disorders NGS panel | |
Distal hereditary motor neuropathy and related disorders NGS panel |
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel | |
Frontonasal dysplasia, SIX2 related |
Bartter syndrome and related disorders NGS panel | |
Nephrolithiasis and related disorders NGS panel |
Bartter syndrome and related disorders NGS panel |
Nephrolithiasis and related disorders NGS panel |
Amelogenesis imperfecta and related disorders NGS panel |
Craniosynostosis NGS panel | |
Progeroid syndromes and related disorders NGS panel |
Nephrolithiasis and related disorders NGS panel |
Arterial tortuosity syndrome | |
Connective tissue disorder NGS panel | |
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel |
Nephrolithiasis and related disorders NGS panel |
Abnormal mineralization disorders NGS panel | |
Nephrolithiasis and related disorders NGS panel |
Abnormal mineralization disorders NGS panel | |
Nephrolithiasis and related disorders NGS panel |
Skeletal dysplasia and skeletal ciliopathy NGS panel | |
Skeletal dysplasia core & extended NGS panel | |
Skeletal dysplasia extended NGS panel |
Extended Carrier Screening panel |
Nephrolithiasis and related disorders NGS panel |
Nephrolithiasis and related disorders NGS panel |
Distal hereditary motor neuropathy and related disorders NGS panel |
Extended Carrier Screening panel |
Nephrolithiasis and related disorders NGS panel |
Abnormal mineralization disorders NGS panel | |
Nephrolithiasis and related disorders NGS panel |
Dense bone dysplasia NGS panel | |
Osteopetrosis and Dense bone dysplasia NGS panel |
Platelet bleeding disorders NGS panel | |
Thrombocytopenia NGS Panel |
Brugada syndrome and related disorders NGS panel | |
Cardiac channelopathy NGS panel |
Connective tissue disorder NGS panel | |
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel |
Pulmonary hypertension NGS panel | |
Pulmonary hypertension, primary, 2 | |
Vascular malformations NGS panel |
Nephrotic syndrome and related disorders NGS panel | |
Spondylo-Epi-Metaphyseal dysplasias NGS panel |
Cornelia de Lange syndrome and related disorders NGS panel |
Cornelia de Lange syndrome and related disorders NGS panel |
Common Carrier Screening Panel | |
Extended Carrier Screening panel | |
Spinal Muscular Atrophy Carrier Screening |
Common Carrier Screening Panel | |
Extended Carrier Screening panel | |
Spinal Muscular Atrophy Carrier Screening |
Amelogenesis imperfecta and related disorders NGS panel |
Common Carrier Screening Panel | |
Extended Carrier Screening panel | |
Platelet bleeding disorders NGS panel | |
Thrombocytopenia NGS Panel |
Snyder-Robinson mental retardation syndrome |
Waardenburg syndrome NGS panel |
Lissencephaly and related disorders NGS panel |
Leber congenital amaurosis and related disorders NGS panel |
Hypotrichosis NGS panel |
Cardiac channelopathy NGS panel | |
Long QT syndrome NGS panel |
Osteopetrosis and Dense bone dysplasia NGS panel | |
Osteopetrosis NGS panel |
Amyotrophic lateral sclerosis and related disorders NGS panel |
Noonan spectrum disorder NGS panel | |
Noonan syndrome core NGS panel |
Noonan spectrum disorder NGS panel | |
Noonan syndrome core NGS panel |
Waardenburg syndrome NGS panel |
Short stature with endocrinopathy NGS panel |
Campomelic dysplasia | |
Skeletal dysplasia and skeletal ciliopathy NGS panel | |
Skeletal dysplasia core & extended NGS panel | |
Skeletal dysplasia core NGS panel |
Osteogenesis imperfecta NGS panel - Dominant & Recessive | |
Osteogenesis imperfecta NGS panel - Recessive | |
Osteogenesis imperfecta, type XII |
Osteogenesis imperfecta NGS panel - Dominant & Recessive | |
Osteogenesis imperfecta NGS panel - Recessive | |
Osteogenesis imperfecta, type XVII |
Leber congenital amaurosis and related disorders NGS panel |
Opitz GBBB syndrome NGS panel |
Amyotrophic lateral sclerosis and related disorders NGS panel |
Neurofibromatosis and related disorders NGS panel | |
Noonan spectrum disorder NGS panel |
Amyotrophic lateral sclerosis and related disorders NGS panel | |
Distal Myopathy NGS panel | |
Paget disease of bone 3 | |
Paget disease of bone and related disorders NGS panel |
Thrombocytopenia NGS Panel |
Lissencephaly and related disorders NGS panel |
Ichthyosis NGS panel |
Microcephaly-capillary malformation syndrome |
Ichthyosis NGS panel |
Basal cell nevus syndrome - SUFU | |
Basal cell nevus syndrome NGS panel | |
Joubert syndrome and related disorders NGS panel |
Ichthyosis NGS panel |
Extended Carrier Screening panel |
Cleft lip, cleft palate and related disorders NGS panel |