Browse CTGT's catalogue of connective tissue tests, including NGS panels, by gene.
Chondrodysplasia punctata 2, X-linked dominant | |
Chondrodysplasia punctata and related disorders NGS panel | |
Skeletal dysplasia core & extended NGS panel | |
Skeletal dysplasia extended NGS panel |
Congenital contracture syndrome extended NGS panel | |
Distal arthrogryposes NGS panel |
Ectodermal dysplasia 1, hypohidrotic, X-linked | |
Ectodermal dysplasia NGS panel | |
Oligodontia - Selective tooth agenesis NGS panel |
Ectodermal dysplasia NGS panel |
Ectodermal dysplasia NGS panel |
Waardenburg syndrome NGS panel |
Waardenburg syndrome NGS panel |
Overgrowth syndrome NGS panel | |
Weaver and Cohen-Gibson syndrome NGS panel |
Cutis laxa NGS panel | |
Cutis laxa, autosomal recessive 1B |
Craniofrontonasal syndrome | |
Craniosynostosis NGS panel | |
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel |
Mandibulofacial dysostosis, Guion-Almeida type | |
Treacher Collins syndrome and related disorders NGS panel |
Charcot-Marie-Tooth disease NGS panel |
Spondylo-Epi-Metaphyseal dysplasias NGS panel | |
Wolcott-Rallison syndrome |
Pulmonary hypertension NGS panel | |
Pulmonary venoocclusive disease 2, autosomal recessive | |
Vascular malformations NGS panel |
Vascular malformations NGS panel |
Congenital heart disease NGS panel | |
Cutis laxa NGS panel | |
Cutis laxa, autosomal dominant 1 | |
Supravalvular aortic stenosis |
Atrioventricular block NGS Panel | |
Limb girdle muscular dystrophy NGS panel |
Nephrotic syndrome and related disorders NGS panel |
Amelogenesis imperfecta and related disorders NGS panel |
Hereditary Hemorrhagic telangiectasia NGS panel | |
Hereditary hemorrhagic telangiectasia type 1 | |
Pulmonary hypertension NGS panel | |
Vascular malformations NGS panel |
Adams-Oliver syndrome 4 | |
Adams-Oliver syndrome NGS panel |
Rubinstein-Taybi syndrome 2 | |
Rubinstein-Taybi syndrome NGS panel |
Congenital contracture syndrome extended NGS panel | |
Lethal congenital contracture syndrome and related disorders NGS Panel |
Amyotrophic lateral sclerosis and related disorders NGS panel |
Craniosynostosis NGS panel |
Roberts syndrome & SC phocomelia syndrome |
Thrombocytopenia NGS Panel |
Ellis-van Creveld syndrome and Weyers acrofacial dysostosis NGS Panel | |
Skeletal dysplasia ciliopathy NGS panel |
Ellis-van Creveld syndrome and Weyers acrofacial dysostosis NGS Panel | |
Skeletal dysplasia ciliopathy NGS panel |
Epidermolysis bullosa NGS panel |
Exostoses, multiple, type I | |
Multiple exostoses NGS panel |
Exostoses, multiple, type II | |
Multiple exostoses NGS panel |
Overgrowth syndrome NGS panel | |
Weaver and Cohen-Gibson syndrome NGS panel | |
Weaver syndrome |