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 |
Lissencephaly and related disorders NGS panel | |
Lissencephaly core NGS panel |
Common Carrier Screening Panel | |
Extended Carrier Screening panel | |
Phenylketonuria Carrier Screening |
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 |
Overgrowth syndrome 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 |
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 |
Extended Carrier Screening panel |
Extended Carrier Screening panel |
Joubert syndrome and related disorders NGS panel |
Congenital contracture syndrome extended NGS panel | |
Distal arthrogryposes NGS panel |
Overgrowth syndrome NGS panel | |
Simpson-Golabi-Behmel syndrome, PIGA related |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus NGS panel |
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 |
Extended Carrier Screening panel | |
Nephronophthisis and related disorders 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 |
Connective tissue disorder NGS panel | |
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive | |
Ehlers-Danlos syndrome NGS panel - Recessive | |
Ehlers-Danlos syndrome, kyphoscoliotic type, 1 |
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 | |
Lissencephaly and related disorders NGS panel |
Lissencephaly and related disorders NGS panel |
Limb girdle muscular dystrophy NGS panel | |
Lissencephaly and related disorders NGS panel |
Ichthyosis NGS panel |
Limb girdle muscular dystrophy NGS panel | |
Lissencephaly and related disorders NGS panel |
Limb girdle muscular dystrophy NGS panel | |
Lissencephaly and related disorders 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 |
Platelet bleeding disorders NGS panel | |
Thrombocytopenia NGS Panel |
Polycystic liver disease 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 |
Extended Carrier Screening panel |
Myofibrillar myopathy and related disorders NGS panel |