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

EBP
Chondrodysplasia punctata 2, X-linked dominant
NGS
Del Dup
Chondrodysplasia punctata and related disorders NGS panel
NGS
Del Dup
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia extended NGS panel
NGS
Del Dup
ECEL1
Distal arthrogryposes NGS panel
NGS
Del Dup
EDA
Ectodermal dysplasia 1, hypohidrotic, X-linked
Sanger
Del Dup
Ectodermal dysplasia NGS panel
Del Dup
NGS
Oligodontia - Selective tooth agenesis NGS panel
Del Dup
NGS
EDAR
Ectodermal dysplasia NGS panel
NGS
Del Dup
EDARADD
Ectodermal dysplasia NGS panel
NGS
Del Dup
EDN3
Waardenburg syndrome NGS panel
NGS
Del Dup
EDNRB
Waardenburg syndrome NGS panel
NGS
Del Dup
EED
Overgrowth syndrome NGS panel
NGS
Del Dup
Weaver and Cohen-Gibson syndrome NGS panel
NGS
Del Dup
EFEMP2
Cutis laxa NGS panel
Del Dup
NGS
Cutis laxa, autosomal recessive 1B
Del Dup
NGS
EFNB1
Craniofrontonasal syndrome
Sanger
Del Dup
Craniosynostosis NGS panel
Del Dup
NGS
Frontonasal dysplasia 1 / 2 / 3 and Craniofrontonasal syndrome
Sanger
Del Dup
EFTUD2
Mandibulofacial dysostosis, Guion-Almeida type
Del Dup
NGS
Treacher Collins syndrome and related disorders NGS panel
Del Dup
NGS
EGR2
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
EIF2AK3
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
Wolcott-Rallison syndrome
Del Dup
NGS
EIF2AK4
Pulmonary hypertension NGS panel
Del Dup
NGS
Pulmonary venoocclusive disease 2, autosomal recessive
Del Dup
NGS
Vascular malformations NGS panel
NGS
Del Dup
ELMO2
Vascular malformations NGS panel
Del Dup
NGS
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
NGS
Del Dup
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
Del Dup
NGS
Hereditary hemorrhagic telangiectasia type 1
Del Dup
NGS
Pulmonary hypertension NGS panel
Del Dup
NGS
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
NGS
Del Dup
EOGT
Adams-Oliver syndrome 4
Del Dup
NGS
Adams-Oliver syndrome NGS panel
Del Dup
NGS
EP300
Rubinstein-Taybi syndrome 2
Del Dup
NGS
Rubinstein-Taybi syndrome NGS panel
Del Dup
NGS
ERBB4
Amyotrophic lateral sclerosis and related disorders NGS panel
Del Dup
NGS
ERF
Craniosynostosis NGS panel
NGS
Del Dup
ESCO2
Roberts syndrome
Sanger
Del Dup
SC phocomelia syndrome
Del Dup
Sanger
ETV6
Thrombocytopenia NGS Panel
Del Dup
NGS
EVC
Ellis-van Creveld syndrome and Weyers acrofacial dysostosis NGS Panel
NGS
Del Dup
Skeletal dysplasia ciliopathy NGS panel
NGS
Del Dup
EVC2
Ellis-van Creveld syndrome and Weyers acrofacial dysostosis NGS Panel
Del Dup
NGS
Skeletal dysplasia ciliopathy NGS panel
Del Dup
NGS
EXPH5
Epidermolysis bullosa NGS panel
NGS
Del Dup
EXT1
Exostoses, multiple, type I
Del Dup
NGS
Multiple exostoses NGS panel
Del Dup
NGS
EXT2
Exostoses, multiple, type II
Del Dup
NGS
Multiple exostoses NGS panel
Del Dup
NGS
EZH2
Overgrowth syndrome NGS panel
Del Dup
NGS
Weaver and Cohen-Gibson syndrome NGS panel
NGS
Del Dup
Weaver syndrome
Del Dup
NGS

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