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
Del Dup
NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel
Del Dup
NGS
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia extended NGS panel
Del Dup
NGS
ECEL1
Congenital contracture syndrome extended NGS panel
NGS
Del Dup
Distal arthrogryposes NGS panel
NGS
Del Dup
EDA
Ectodermal dysplasia 1, hypohidrotic, X-linked
NGS
Sanger
Del Dup
Ectodermal dysplasia NGS panel
Del Dup
NGS
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
EDN1
Auriculocondylar syndrome NGS panel
NGS
Del Dup
EDN3
Waardenburg syndrome NGS panel
NGS
Del Dup
EDNRA
Treacher Collins syndrome and related disorders NGS panel
NGS
Del Dup
EDNRB
Waardenburg syndrome NGS panel
NGS
Del Dup
EED
Overgrowth syndrome NGS panel
Del Dup
NGS
Weaver and Cohen-Gibson syndrome NGS panel
Del Dup
NGS
EFEMP2
Cutis laxa NGS panel
NGS
Del Dup
Cutis laxa, autosomal recessive 1B
NGS
Del Dup
EFNB1
Craniofrontonasal syndrome
Del Dup
NGS
Sanger
Craniosynostosis NGS panel
Del Dup
NGS
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel
NGS
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
Del Dup
NGS
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
Del Dup
NGS
ELMO2
Vascular malformations NGS panel
NGS
Del Dup
ELN
Congenital heart disease NGS panel
NGS
Del Dup
Cutis laxa NGS panel
NGS
Del Dup
Cutis laxa, autosomal dominant 1
Del Dup
NGS
Supravalvular aortic stenosis
Del Dup
NGS
EMD
Atrioventricular block NGS Panel
NGS
Del Dup
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
EMP2
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
ENAM
Amelogenesis imperfecta and related disorders NGS panel
NGS
Del Dup
ENG
Hereditary Hemorrhagic telangiectasia NGS panel
NGS
Del Dup
Hereditary hemorrhagic telangiectasia type 1
NGS
Del Dup
Pulmonary hypertension NGS panel
Del Dup
NGS
Vascular malformations NGS panel
Del Dup
NGS
ENPP1
Abnormal mineralization disorders NGS panel
NGS
Del Dup
Arterial calcification, generalized, of infancy NGS panel
NGS
Del Dup
Arterial calcification, generalized, of infancy, 1
Del Dup
NGS
Rickets, hypophosphatemic, autosomal recessive, 2
Del Dup
NGS
EOGT
Adams-Oliver syndrome 4
NGS
Del Dup
Adams-Oliver syndrome NGS panel
NGS
Del Dup
EP300
Rubinstein-Taybi syndrome 2
Del Dup
NGS
Rubinstein-Taybi syndrome NGS panel
NGS
Del Dup
ERBB3
Congenital contracture syndrome extended NGS panel
Del Dup
NGS
Lethal congenital contracture syndrome and related disorders NGS Panel
Del Dup
NGS
ERBB4
Amyotrophic lateral sclerosis and related disorders NGS panel
NGS
Del Dup
ERCC1
Cerebrooculofacioskeletal syndrome NGS panel
NGS
Del Dup
Xeroderma pigmentosum NGS panel
Del Dup
NGS
ERCC2
Cerebrooculofacioskeletal syndrome NGS panel
Del Dup
NGS
Progeroid syndromes and related disorders NGS panel
Del Dup
NGS
Trichothiodystrophy NGS panel
NGS
Del Dup
Xeroderma pigmentosum NGS panel
Del Dup
NGS
ERCC3
Progeroid syndromes and related disorders NGS panel
Del Dup
NGS
Trichothiodystrophy NGS panel
Del Dup
NGS
Xeroderma pigmentosum NGS panel
Del Dup
NGS
ERCC4
Progeroid syndromes and related disorders NGS panel
NGS
Del Dup
Xeroderma pigmentosum NGS panel
NGS
Del Dup
ERCC5
Cerebrooculofacioskeletal syndrome NGS panel
Del Dup
NGS
Progeroid syndromes and related disorders NGS panel
Del Dup
NGS
Xeroderma pigmentosum NGS panel
Del Dup
NGS
ERCC6
Cerebrooculofacioskeletal syndrome NGS panel
NGS
Del Dup
Cockayne syndrome NGS panel
NGS
Del Dup
Progeroid syndromes and related disorders NGS panel
NGS
Del Dup
ERCC8
Cockayne syndrome NGS panel
NGS
Del Dup
Progeroid syndromes and related disorders NGS panel
Del Dup
NGS
ERF
Craniosynostosis NGS panel
Del Dup
NGS
ESCO2
Roberts syndrome & SC phocomelia syndrome
Del Dup
NGS
ETV6
Thrombocytopenia NGS Panel
Del Dup
NGS
EVC
Ellis-van Creveld syndrome and Weyers acrofacial dysostosis NGS Panel
Del Dup
NGS
Skeletal ciliopathy NGS panel
Del Dup
NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel
Del Dup
NGS
EVC2
Ellis-van Creveld syndrome and Weyers acrofacial dysostosis NGS Panel
NGS
Del Dup
Skeletal ciliopathy NGS panel
NGS
Del Dup
Skeletal dysplasia and skeletal ciliopathy NGS panel
NGS
Del Dup
EXPH5
Epidermolysis bullosa NGS panel
Del Dup
NGS
EXT1
Exostoses, multiple, type I
NGS
Del Dup
Multiple exostoses NGS panel
NGS
Del Dup
EXT2
Exostoses, multiple, type II
NGS
Del Dup
Multiple exostoses NGS panel
NGS
Del Dup
EZH2
Overgrowth syndrome NGS panel
NGS
Del Dup
Sotos syndrome and related disorders NGS panel
NGS
Del Dup
Weaver and Cohen-Gibson syndrome NGS panel
NGS
Del Dup
Weaver syndrome
Del Dup
NGS

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