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
Congenital contracture syndrome extended NGS panel
Del Dup
NGS
Distal arthrogryposes NGS panel
Del Dup
NGS
EDA
Ectodermal dysplasia 1, hypohidrotic, X-linked
Del Dup
NGS
Sanger
Ectodermal dysplasia NGS panel
Del Dup
NGS
Oligodontia - Selective tooth agenesis NGS panel
Del Dup
NGS
EDAR
Ectodermal dysplasia NGS panel
Del Dup
NGS
EDARADD
Ectodermal dysplasia NGS panel
Del Dup
NGS
EDN1
Auriculocondylar syndrome NGS panel
Del Dup
NGS
EDN3
Waardenburg syndrome NGS panel
Del Dup
NGS
EDNRA
Treacher Collins syndrome and related disorders NGS panel
NGS
Del Dup
EDNRB
Waardenburg syndrome NGS panel
Del Dup
NGS
EED
Overgrowth syndrome NGS panel
Del Dup
NGS
Weaver and Cohen-Gibson syndrome NGS panel
Del Dup
NGS
EFEMP2
Cutis laxa NGS panel
Del Dup
NGS
Cutis laxa, autosomal recessive 1B
NGS
Del Dup
EFNB1
Craniofrontonasal syndrome
NGS
Sanger
Del Dup
Craniosynostosis NGS panel
NGS
Del Dup
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel
Del Dup
NGS
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
Del Dup
NGS
EIF2AK3
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
Wolcott-Rallison syndrome
Del Dup
NGS
EIF2AK4
Pulmonary hypertension NGS panel
NGS
Del Dup
Pulmonary venoocclusive disease 2, autosomal recessive
NGS
Del Dup
Vascular malformations NGS panel
NGS
Del Dup
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
NGS
Del Dup
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
NGS
Del Dup
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
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
NGS
Del Dup
EOGT
Adams-Oliver syndrome 4
NGS
Del Dup
Adams-Oliver syndrome NGS panel
Del Dup
NGS
EP300
Rubinstein-Taybi syndrome 2
NGS
Del Dup
Rubinstein-Taybi syndrome NGS panel
NGS
Del Dup
ERBB3
Congenital contracture syndrome extended NGS panel
NGS
Del Dup
Lethal congenital contracture syndrome and related disorders NGS Panel
NGS
Del Dup
ERBB4
Amyotrophic lateral sclerosis and related disorders NGS panel
NGS
Del Dup
ERCC1
Cerebrooculofacioskeletal syndrome NGS panel
Del Dup
NGS
Xeroderma pigmentosum NGS panel
Del Dup
NGS
ERCC2
Cerebrooculofacioskeletal syndrome NGS panel
Del Dup
NGS
Progeroid syndromes and related disorders NGS panel
NGS
Del Dup
Trichothiodystrophy NGS panel
NGS
Del Dup
Xeroderma pigmentosum NGS panel
NGS
Del Dup
ERCC3
Progeroid syndromes and related disorders NGS panel
NGS
Del Dup
Trichothiodystrophy NGS panel
NGS
Del Dup
Xeroderma pigmentosum NGS panel
NGS
Del Dup
ERCC4
Progeroid syndromes and related disorders NGS panel
NGS
Del Dup
Xeroderma pigmentosum NGS panel
Del Dup
NGS
ERCC5
Cerebrooculofacioskeletal syndrome NGS panel
NGS
Del Dup
Progeroid syndromes and related disorders NGS panel
NGS
Del Dup
Xeroderma pigmentosum NGS panel
NGS
Del Dup
ERCC6
Cerebrooculofacioskeletal syndrome NGS panel
NGS
Del Dup
Cockayne syndrome NGS panel
Del Dup
NGS
Progeroid syndromes and related disorders NGS panel
Del Dup
NGS
ERCC8
Cockayne syndrome NGS panel
Del Dup
NGS
Progeroid syndromes and related disorders NGS panel
Del Dup
NGS
ERF
Craniosynostosis NGS panel
NGS
Del Dup
ESCO2
Roberts syndrome & SC phocomelia syndrome
Del Dup
NGS
ETV6
Thrombocytopenia NGS Panel
NGS
Del Dup
EVC
Ellis-van Creveld syndrome and Weyers acrofacial dysostosis NGS Panel
Del Dup
NGS
Skeletal dysplasia ciliopathy NGS panel
Del Dup
NGS
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
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
Del Dup
NGS
Sotos syndrome and related disorders NGS panel
Del Dup
NGS
Weaver and Cohen-Gibson syndrome NGS panel
Del Dup
NGS
Weaver syndrome
NGS
Del Dup

Search Tests

TIP: enter a partial disorder name or gene to widen your search