Browse CTGT's catalogue of connective tissue tests, including NGS panels, by gene.
Congenital heart disease NGS panel | |
Frontometaphyseal dysplasia NGS panel |
Osteogenesis imperfecta NGS panel - Dominant & Recessive | |
Osteogenesis imperfecta NGS panel - Recessive |
Amyotrophic lateral sclerosis and related disorders NGS panel |
Kenny-Caffey syndrome NGS panel | |
Kenny-Caffey syndrome, type 1 |
Amyotrophic lateral sclerosis and related disorders NGS panel |
Congenital heart disease NGS panel |
Congenital heart disease NGS panel |
Cleft lip, cleft palate and related disorders NGS panel |
Atrial fibrillation NGS panel | |
Congenital heart disease NGS panel |
Spondylocostal dysostosis 5, autosomal dominant | |
Spondylocostal dysostosis NGS panel |
Platelet bleeding disorders NGS panel |
Dense bone dysplasia NGS panel | |
Osteopetrosis and Dense bone dysplasia NGS panel | |
Platelet bleeding disorders NGS panel | |
Thrombocytopenia NGS Panel |
Distal Myopathy NGS panel | |
Limb girdle muscular dystrophy NGS panel |
Craniosynostosis core NGS panel | |
Craniosynostosis NGS panel |
Osteopetrosis and Dense bone dysplasia NGS panel | |
Osteopetrosis core NGS panel | |
Osteopetrosis NGS panel | |
Osteopetrosis, autosomal recessive 1 |
Treacher Collins syndrome 1 | |
Treacher Collins syndrome and related disorders NGS panel | |
Treacher Collins syndrome core NGS panel |
Skeletal ciliopathy NGS panel | |
Skeletal dysplasia and skeletal ciliopathy NGS panel |
Joubert syndrome and related disorders NGS panel |
Joubert syndrome and related disorders NGS panel |
Joubert syndrome and related disorders NGS panel |
Cardiac channelopathy NGS panel | |
Catecholaminergic polymorphic ventricular tachycardia NGS panel |
Cutaneomucosal venous malformations | |
Glomuvenous malformations and Cutaneomucosal venous malformations NGS panel | |
Vascular malformations NGS panel |
Dyskeratosis congenita NGS panel |
Dyskeratosis congenita NGS panel |
Branchiooculofacial syndrome |
Charcot-Marie-Tooth disease NGS panel |
Catel-Manzke syndrome | |
Cleft lip, cleft palate and related disorders NGS panel |
Camurati-Engelmann disease | |
Dense bone dysplasia NGS panel | |
Osteopetrosis and Dense bone dysplasia NGS panel |
Ichthyosis NGS panel |
Epidermolysis bullosa NGS panel | |
Ichthyosis NGS panel | |
Peeling skin syndrome NGS panel |
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel |
Distal Myopathy NGS panel |
Dyskeratosis congenita NGS panel |
Cholestasis NGS Panel | |
Cholestasis, progressive familial intrahepatic, 4 |
Joubert syndrome and related disorders NGS panel |
Joubert syndrome and related disorders NGS panel | |
Nephronophthisis and related disorders NGS panel |
Joubert syndrome and related disorders NGS panel | |
Nephronophthisis and related disorders NGS panel |
Joubert syndrome and related disorders NGS panel | |
Polycystic kidney disease and related disorders NGS panel |
Joubert syndrome and related disorders NGS panel |
Osteogenesis imperfecta NGS panel - Dominant & Recessive | |
Osteogenesis imperfecta NGS panel - Recessive |
Joubert syndrome and related disorders NGS panel | |
Nephronophthisis and related disorders NGS panel |
Lissencephaly and related disorders NGS panel | |
Lissencephaly core NGS panel |
Osteopetrosis and Dense bone dysplasia NGS panel | |
Osteopetrosis NGS panel | |
Osteopetrosis, autosomal recessive 7 | |
Paget disease of bone 2 | |
Paget disease of bone and related disorders NGS panel |
Dense bone dysplasia NGS panel | |
Osteopetrosis and Dense bone dysplasia NGS panel | |
Paget disease of bone 5 | |
Paget disease of bone and related disorders NGS panel |
Osteopetrosis and Dense bone dysplasia NGS panel | |
Osteopetrosis NGS panel | |
Osteopetrosis, autosomal recessive 2 |
Congenital contracture syndrome extended NGS panel | |
Distal arthrogryposes NGS panel |
Congenital contracture syndrome extended NGS panel | |
Distal arthrogryposes NGS panel |
Limb girdle muscular dystrophy NGS panel |
Limb girdle muscular dystrophy NGS panel |
Cleft lip, cleft palate and related disorders NGS panel |
Congenital contracture syndrome extended NGS panel | |
Distal arthrogryposes NGS panel |
Nephronophthisis and related disorders NGS panel |
Microcephalic primordial dwarfism NGS panel |
Limb girdle muscular dystrophy NGS panel |
Spondylo-Epi-Metaphyseal dysplasias NGS panel | |
Spondyloepiphyseal dysplasia tarda, X-linked |
Cardiac channelopathy NGS panel | |
Catecholaminergic polymorphic ventricular tachycardia NGS panel | |
Long QT syndrome NGS panel |
Cerebral small vessel disease NGS panel |
Charcot-Marie-Tooth disease NGS panel |
Limb girdle muscular dystrophy NGS panel |
Achondrogenesis NGS panel | |
Achondrogenesis, type IA | |
Skeletal dysplasia and skeletal ciliopathy NGS panel | |
Skeletal dysplasia core & extended NGS panel | |
Skeletal dysplasia core NGS panel |
Nephrotic syndrome and related disorders NGS panel |
Atrioventricular block NGS Panel | |
Brugada syndrome and related disorders NGS panel | |
Cardiac channelopathy NGS panel | |
Progressive familial heart block type I NGS panel |
Trichorhinophalangeal syndrome, type I / III |
Polycystic kidney disease and related disorders NGS panel | |
Tuberous sclerosis NGS panel |
Polycystic kidney disease and related disorders NGS panel | |
Tuberous sclerosis NGS panel |
Exudative vitreoretinopathy 5 | |
Exudative vitreoretinopathy NGS panel | |
Vitreoretinopathy NGS panel |
Diamond-Blackfan anemia NGS panel |
Distal Myopathy NGS panel | |
Limb girdle muscular dystrophy NGS panel |
Lissencephaly and related disorders NGS panel | |
Lissencephaly core NGS panel |
Amyotrophic lateral sclerosis and related disorders NGS panel |
Lissencephaly and related disorders NGS panel |
Lissencephaly and related disorders NGS panel |
Thrombocytopenia NGS Panel |
Lissencephaly and related disorders NGS panel |
Lissencephaly and related disorders NGS panel |
Lissencephaly and related disorders NGS panel |
Lissencephaly and related disorders NGS panel |
Leber congenital amaurosis and related disorders NGS panel |
Craniosynostosis core NGS panel | |
Craniosynostosis NGS panel | |
Craniosynostosis, type 1 | |
FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel | |
Saethre-Chotzen syndrome |
Ablepharon-macrostomia syndrome | |
Barber-Say syndrome |
Treacher Collins syndrome and related disorders NGS panel |
Waardenburg syndrome NGS panel |
Dense bone dysplasia NGS panel | |
Osteopetrosis and Dense bone dysplasia NGS panel |