Browse CTGT's catalogue of connective tissue tests, including NGS panels, by gene.
Craniosynostosis NGS panel |
Dyggve-Melchior-Clausen disease NGS panel | |
Smith-McCort dysplasia NGS panel | |
Spondylo-Epi-Metaphyseal dysplasias NGS panel |
Charcot-Marie-Tooth disease NGS panel |
Cornelia de Lange syndrome and related disorders NGS panel |
Noonan spectrum disorder NGS panel | |
Noonan syndrome core NGS panel |
Brugada syndrome and related disorders NGS panel | |
Cardiac channelopathy NGS panel |
Kabuki syndrome NGS panel |
Kabuki syndrome NGS panel |
Congenital contracture syndrome extended NGS panel | |
Lethal congenital contracture syndrome and related disorders NGS Panel |
Capillary malformation arteriovenous malformation | |
Hereditary Hemorrhagic telangiectasia NGS panel | |
Parkes Weber syndrome | |
Vascular malformations NGS panel |
Noonan spectrum disorder NGS panel |
Platelet bleeding disorders NGS panel |
Microcephalic primordial dwarfism NGS panel |
Thrombocytopenia and absent radius syndrome | |
Thrombocytopenia NGS Panel |
Adams-Oliver syndrome 3 | |
Adams-Oliver syndrome NGS panel |
Leber congenital amaurosis and related disorders NGS panel |
Leber congenital amaurosis and related disorders NGS panel |
Leber congenital amaurosis and related disorders NGS panel |
Craniosynostosis NGS panel | |
Progeroid syndromes and related disorders NGS panel |
Distal hereditary motor neuropathy and related disorders NGS panel |
Lissencephaly and related disorders NGS panel | |
Lissencephaly core NGS panel |
Hyperuricemic nephropathy, familial juvenile NGS panel | |
Renal tubular dysgenesis NGS panel |
Popliteal pterygium syndrome NGS panel | |
Popliteal pterygium syndrome, lethal type |
Klippel-Feil syndrome NGS panel | |
Klippel-Feil syndrome, RIPPLY2 related | |
Spondylocostal dysostosis 6, autosomal recessive | |
Spondylocostal dysostosis NGS panel |
Noonan spectrum disorder NGS panel | |
Noonan syndrome core NGS panel |
Trichothiodystrophy NGS panel |
Microcephalic primordial dwarfism NGS panel | |
Spondylo-Epi-Metaphyseal dysplasias NGS panel |
Leber congenital amaurosis and related disorders NGS panel |
Robinow syndrome NGS panel | |
Robinow syndrome, autosomal recessive |
Leber congenital amaurosis and related disorders NGS panel |
Leber congenital amaurosis and related disorders NGS panel |
Joubert syndrome and related disorders NGS panel | |
Nephronophthisis and related disorders NGS panel |
Diamond-Blackfan anemia NGS panel |
Diamond-Blackfan anemia NGS panel |
Hypotrichosis NGS panel |
Diamond-Blackfan anemia NGS panel |
Diamond-Blackfan anemia NGS panel |
Diamond-Blackfan anemia NGS panel |
Diamond-Blackfan anemia NGS panel |
Diamond-Blackfan anemia NGS panel |
Diamond-Blackfan anemia NGS panel |
Diamond-Blackfan anemia NGS panel |
Diamond-Blackfan anemia NGS panel |
Diamond-Blackfan anemia NGS panel |
Diamond-Blackfan anemia NGS panel |
Diamond-Blackfan anemia NGS panel |
Diamond-Blackfan anemia NGS panel |
Diamond-Blackfan anemia NGS panel |
Diamond-Blackfan anemia NGS panel |
Noonan spectrum disorder NGS panel |
Vitreoretinopathy NGS panel |
Spondylo-Epi-Metaphyseal dysplasias NGS panel |
Dyskeratosis congenita NGS panel |
Thrombocytopenia NGS Panel |
Cleidocranial dysplasia | |
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | |
Spondylo-Epi-Metaphyseal dysplasias NGS panel |
Lissencephaly and related disorders NGS panel |
Cardiac channelopathy NGS panel | |
Catecholaminergic polymorphic ventricular tachycardia NGS panel | |
Long QT syndrome NGS panel |