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

RAB23
Craniosynostosis NGS panel
Del Dup
NGS
RAB7A
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
RAD21
Cornelia de Lange syndrome NGS panel
Del Dup
NGS
RAF1
Noonan spectrum disorder NGS panel
Del Dup
NGS
RASA1
Capillary malformation arteriovenous malformation
NGS
Del Dup
Hereditary Hemorrhagic telangiectasia NGS panel
Del Dup
NGS
Parkes Weber syndrome
Del Dup
NGS
Vascular malformations NGS panel
Del Dup
NGS
RASA2
Noonan spectrum disorder NGS panel
Del Dup
NGS
RASGRP2
Platelet bleeding disorders NGS panel
NGS
Del Dup
RBBP8
Microcephalic primordial dwarfism NGS panel
NGS
Del Dup
RBM8A
Thrombocytopenia and absent radius syndrome
Sanger
Del Dup
Thrombocytopenia NGS Panel
Del Dup
NGS
RBPJ
Adams-Oliver syndrome 3
NGS
Del Dup
Adams-Oliver syndrome NGS panel
NGS
Del Dup
RECQL4
Craniosynostosis NGS panel
NGS
Del Dup
REEP1
Distal hereditary motor neuropathy and related disorders NGS panel
NGS
Del Dup
RIPK4
Popliteal pterygium syndrome, lethal type
Sanger
Del Dup
RIPPLY2
Klippel-Feil syndrome NGS panel
Del Dup
NGS
Klippel-Feil syndrome, RIPPLY2 related
Del Dup
Sanger
Spondylocostal dysostosis 6, autosomal recessive
Del Dup
Sanger
Spondylocostal dysostosis NGS panel
Del Dup
NGS
RIT1
Noonan spectrum disorder NGS panel
Del Dup
NGS
RMRP
Anauxetic dysplasia
Del Dup
Sanger
Cartilage-hair hypoplasia
Sanger
Del Dup
Metaphyseal dysplasia without hypotrichosis
Sanger
Del Dup
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia extended NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
RNU4ATAC
Microcephalic primordial dwarfism NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
ROR2
Robinow syndrome NGS panel
NGS
Del Dup
Robinow syndrome, autosomal recessive
Del Dup
Sanger
RPGRIP1L
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
RRAS
Noonan spectrum disorder NGS panel
Del Dup
NGS
RS1
Vitreoretinopathy NGS panel
NGS
Del Dup
RSPRY1
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
RTEL1
Dyskeratosis congenita NGS panel
NGS
Del Dup
RUNX1
Thrombocytopenia NGS Panel
NGS
Del Dup
RUNX2
Cleidocranial dysplasia
Del Dup
Sanger
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
Sanger
Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS

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