Browse CTGT's catalogue of connective tissue tests, including NGS panels, by gene.
| Platelet bleeding disorders NGS panel |
| Osteogenesis imperfecta NGS panel - Dominant & Recessive | |
| Osteogenesis imperfecta NGS panel - Recessive | |
| Osteogenesis imperfecta, type VIII |
| Cole-Carpenter syndrome 1 | |
| Cole-Carpenter syndrome NGS panel | |
| Osteogenesis imperfecta NGS panel - Dominant | |
| Osteogenesis imperfecta NGS panel - Dominant & Recessive |
| Spondylo-Epi-Metaphyseal dysplasias NGS panel |
| Spondylo-Epi-Metaphyseal dysplasias NGS panel |
| Dyskeratosis congenita NGS panel |
| Nephrotic syndrome and related disorders NGS panel |
| Waardenburg syndrome NGS panel |
| Oligodontia - Selective tooth agenesis NGS panel |
| Microcephalic primordial dwarfism NGS panel |
| Spondylo-Epi-Metaphyseal dysplasias NGS panel | |
| Spondylometaphyseal dysplasia with cone-rod dystrophy |
| Cerebral cavernous malformations 3 | |
| Cerebral cavernous malformations NGS panel | |
| Vascular malformations NGS panel |
| Joubert syndrome and related disorders NGS panel |
| Progeroid syndromes and related disorders NGS panel |
| Charcot-Marie-Tooth disease NGS panel | |
| Distal hereditary motor neuropathy and related disorders NGS panel |
| Nephrotic syndrome and related disorders NGS panel |
| Chondrodysplasia punctata and related disorders NGS panel |
| Chondrodysplasia punctata and related disorders NGS panel | |
| Rhizomelic chondrodysplasia punctata type 1 | |
| Skeletal dysplasia core & extended NGS panel | |
| Skeletal dysplasia extended NGS panel |
| Amyotrophic lateral sclerosis and related disorders NGS panel |
| Abnormal mineralization disorders NGS panel | |
| Rickets, hypophosphatemic, X-linked dominant |
| Neu-Laxova syndrome 1 | |
| Neu-Laxova syndrome NGS panel | |
| Phosphoglycerate dehydrogenase deficiency |
| Congenital contracture syndrome extended NGS panel | |
| Distal arthrogryposes NGS panel |
| Overgrowth syndrome NGS panel | |
| Simpson-Golabi-Behmel syndrome, PIGA related |
| Congenital contracture syndrome extended NGS panel | |
| Lethal congenital contracture syndrome and related disorders NGS Panel |
| Polycystic kidney disease and related disorders NGS panel | |
| Polycystic liver disease NGS panel |
| Polycystic kidney disease and related disorders NGS panel | |
| Polycystic liver disease NGS panel |
| Polycystic kidney disease and related disorders NGS panel | |
| Polycystic liver disease NGS panel |
| Epidermolysis bullosa NGS panel |
| Brugada syndrome and related disorders NGS panel | |
| Cardiac channelopathy NGS panel |
| Platelet bleeding disorders NGS panel |
| Auriculocondylar syndrome NGS panel |
| Nephrotic syndrome and related disorders NGS panel |
| Epidermolysis bullosa NGS panel | |
| Limb girdle muscular dystrophy NGS panel |
| Charcot-Marie-Tooth disease NGS panel | |
| Distal hereditary motor neuropathy and related disorders NGS panel |
| Osteopetrosis and Dense bone dysplasia NGS panel | |
| Osteopetrosis NGS panel | |
| Osteopetrosis, autosomal recessive 6 |
| Ehlers-Danlos syndrome NGS panel - Dominant & Recessive | |
| Ehlers-Danlos syndrome NGS panel - Recessive | |
| Ehlers-Danlos syndrome, type VI |
| Bruck syndrome 2 | |
| Osteogenesis imperfecta NGS panel - Dominant & Recessive | |
| Osteogenesis imperfecta NGS panel - Recessive |
| Osteogenesis imperfecta NGS panel - Dominant | |
| Osteogenesis imperfecta NGS panel - Dominant & Recessive | |
| Osteogenesis imperfecta NGS panel - Recessive | |
| Osteogenesis imperfecta, PLS3 related |
| Charcot-Marie-Tooth disease NGS panel |
| Ichthyosis NGS panel |
| Progeroid syndromes and related disorders NGS panel |
| Xeroderma pigmentosum NGS panel |
| Treacher Collins syndrome and related disorders NGS panel |
| Treacher Collins syndrome 3 | |
| Treacher Collins syndrome and related disorders NGS panel | |
| Treacher Collins syndrome core NGS panel |
| Treacher Collins syndrome 2 | |
| Treacher Collins syndrome and related disorders NGS panel | |
| Treacher Collins syndrome core NGS panel |
| Limb girdle muscular dystrophy NGS panel |
| Limb girdle muscular dystrophy NGS panel |
| Ichthyosis NGS panel |
| Limb girdle muscular dystrophy NGS panel |
| Limb girdle muscular dystrophy NGS panel |
| Craniosynostosis NGS panel |
| Focal dermal hypoplasia |
| Short stature with endocrinopathy NGS panel |
| Osteogenesis imperfecta NGS panel - Dominant & Recessive | |
| Osteogenesis imperfecta NGS panel - Recessive | |
| Osteogenesis imperfecta, type IX |
| Noonan spectrum disorder NGS panel |
| Brittle cornea syndrome 2 | |
| Brittle cornea syndrome NGS panel | |
| Ehlers-Danlos syndrome NGS panel - Dominant & Recessive | |
| Ehlers-Danlos syndrome NGS panel - Recessive |
| Platelet bleeding disorders NGS panel | |
| Thrombocytopenia NGS Panel |
| Polycystic liver disease NGS panel |
| Aortic aneurysm, familial thoracic 8 | |
| Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel |
| Short stature with endocrinopathy NGS panel |
| Leber congenital amaurosis and related disorders NGS panel |
| Charcot-Marie-Tooth disease NGS panel |
| Charcot-Marie-Tooth disease NGS panel |
| Neu-Laxova syndrome 2 | |
| Neu-Laxova syndrome NGS panel | |
| Phosphoserine aminotransferase deficiency |
| Basal cell nevus syndrome - PTCH1 | |
| Basal cell nevus syndrome NGS panel |
| Basal cell nevus syndrome - PTCH2 | |
| Basal cell nevus syndrome NGS panel |
| Dense bone dysplasia NGS panel | |
| Osteopetrosis and Dense bone dysplasia NGS panel |
| Vascular malformations NGS panel |
| Noonan spectrum disorder NGS panel | |
| Noonan syndrome core NGS panel |
| Nephrotic syndrome and related disorders NGS panel |
| Cutis laxa NGS panel | |
| Cutis laxa, autosomal recessive, type IIB & type IIIB | |
| Progeroid syndromes and related disorders NGS panel |
| Myofibrillar myopathy and related disorders NGS panel |