Browse CTGT's catalogue of connective tissue tests, including NGS panels, by gene.

EBP
Chondrodysplasia punctata 2, X-linked dominant
Del Dup
NGS
Chondrodysplasia punctata and related disorders NGS panel
NGS
Del Dup
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia extended NGS panel
Del Dup
NGS
ECEL1
Distal arthrogryposes NGS panel
Del Dup
NGS
EDA
Ectodermal dysplasia 1, hypohidrotic, X-linked
Del Dup
Sanger
Ectodermal dysplasia NGS panel
NGS
Del Dup
Oligodontia - Selective tooth agenesis NGS panel
NGS
Del Dup
EDAR
Ectodermal dysplasia NGS panel
Del Dup
NGS
EDARADD
Ectodermal dysplasia NGS panel
Del Dup
NGS
EDN3
Waardenburg syndrome NGS panel
NGS
Del Dup
EDNRB
Waardenburg syndrome NGS panel
NGS
Del Dup
EFEMP2
Cutis laxa NGS panel
NGS
Del Dup
Cutis laxa, autosomal recessive 1B
Del Dup
NGS
EFNB1
Craniofrontonasal syndrome
Del Dup
Sanger
Craniosynostosis NGS panel
NGS
Del Dup
Frontonasal dysplasia 1 / 2 / 3 and Craniofrontonasal syndrome
Del Dup
Sanger
EFTUD2
Mandibulofacial dysostosis, Guion-Almeida type
NGS
Del Dup
Treacher Collins syndrome and related disorders NGS panel
NGS
Del Dup
EGR2
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
EIF2AK3
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
Wolcott-Rallison syndrome
NGS
Del Dup
EIF2AK4
Pulmonary hypertension NGS panel
Del Dup
NGS
Pulmonary venoocclusive disease 2, autosomal recessive
NGS
Del Dup
Vascular malformations NGS panel
Del Dup
NGS
ELMO2
Vascular malformations NGS panel
NGS
Del Dup
ELN
Congenital heart disease NGS panel
Del Dup
NGS
Cutis laxa NGS panel
Del Dup
NGS
Cutis laxa, autosomal dominant 1
NGS
Del Dup
Supravalvular aortic stenosis
Del Dup
NGS
EMP2
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
ENAM
Amelogenesis imperfecta and related disorders NGS panel
Del Dup
NGS
ENG
Hereditary Hemorrhagic telangiectasia NGS panel
NGS
Del Dup
Hereditary hemorrhagic telangiectasia type 1
Del Dup
NGS
Pulmonary hypertension NGS panel
NGS
Del Dup
Vascular malformations NGS panel
NGS
Del Dup
ENPP1
Abnormal mineralization disorders NGS panel
Del Dup
NGS
Arterial calcification, generalized, of infancy NGS panel
Del Dup
NGS
Arterial calcification, generalized, of infancy, 1
NGS
Del Dup
Rickets, hypophosphatemic, autosomal recessive, 2
Del Dup
NGS
EOGT
Adams-Oliver syndrome 4
Del Dup
NGS
Adams-Oliver syndrome NGS panel
NGS
Del Dup
EP300
Rubinstein-Taybi syndrome 2
NGS
Del Dup
Rubinstein-Taybi syndrome NGS panel
NGS
Del Dup
ERBB4
Amyotrophic lateral sclerosis and related disorders NGS panel
NGS
Del Dup
ERF
Craniosynostosis NGS panel
Del Dup
NGS
ESCO2
Roberts syndrome
Del Dup
Sanger
SC phocomelia syndrome
Del Dup
Sanger
ETV6
Thrombocytopenia NGS Panel
Del Dup
NGS
EVC
Ellis-van Creveld syndrome NGS Panel
Del Dup
NGS
Skeletal dysplasia ciliopathy NGS panel
NGS
Del Dup
EVC2
Ellis-van Creveld syndrome NGS Panel
Del Dup
NGS
Skeletal dysplasia ciliopathy NGS panel
NGS
Del Dup
EXPH5
Epidermolysis bullosa NGS panel
Del Dup
NGS
EXT1
Exostoses, multiple, type I
Sanger
Del Dup
Exostoses, multiple, type I & II
Sanger
Del Dup
EXT2
Exostoses, multiple, type I & II
Del Dup
Sanger
Exostoses, multiple, type II
Sanger
Del Dup
EZH2
Simpson-Golabi-Behmel, Sotos and Weaver syndrome NGS panel
Del Dup
NGS
Weaver syndrome
Del Dup
NGS

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