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

RAB1B
Kabuki syndrome NGS panel
Del Dup
NGS
RAB23
Craniosynostosis NGS panel
Del Dup
NGS
RAB33B
Dyggve-Melchior-Clausen disease NGS panel
Del Dup
NGS
Smith-McCort dysplasia NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
RAB7A
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
RAD21
Cornelia de Lange syndrome and related disorders NGS panel
Del Dup
NGS
RAF1
Noonan spectrum disorder NGS panel
Del Dup
NGS
Noonan syndrome core NGS panel
NGS
Del Dup
RANGRF
Brugada syndrome and related disorders NGS panel
NGS
Del Dup
Cardiac channelopathy NGS panel
Del Dup
NGS
RAP1A
Kabuki syndrome NGS panel
Del Dup
NGS
RAPSN
Congenital contracture syndrome extended NGS panel
NGS
Del Dup
Lethal congenital contracture syndrome and related disorders NGS Panel
NGS
Del Dup
RASA1
Capillary malformation arteriovenous malformation
Del Dup
NGS
Hereditary Hemorrhagic telangiectasia NGS panel
NGS
Del Dup
Parkes Weber syndrome
Del Dup
NGS
Vascular malformations NGS panel
NGS
Del Dup
RASA2
Noonan spectrum disorder NGS panel
NGS
Del Dup
RASGRP2
Platelet bleeding disorders NGS panel
NGS
Del Dup
RBBP8
Microcephalic primordial dwarfism NGS panel
NGS
Del Dup
RBM8A
Thrombocytopenia and absent radius syndrome
Del Dup
NGS
Sanger
Thrombocytopenia NGS Panel
Del Dup
NGS
RBPJ
Adams-Oliver syndrome 3
NGS
Del Dup
Adams-Oliver syndrome NGS panel
NGS
Del Dup
RD3
Leber congenital amaurosis and related disorders NGS panel
NGS
Del Dup
RDH12
Leber congenital amaurosis and related disorders NGS panel
Del Dup
NGS
RDH5
Leber congenital amaurosis and related disorders NGS panel
Del Dup
NGS
RECQL4
Craniosynostosis NGS panel
Del Dup
NGS
Progeroid syndromes and related disorders NGS panel
Del Dup
NGS
REEP1
Distal hereditary motor neuropathy and related disorders NGS panel
Del Dup
NGS
RELN
Lissencephaly and related disorders NGS panel
NGS
Del Dup
Lissencephaly core NGS panel
Del Dup
NGS
REN
Hyperuricemic nephropathy, familial juvenile NGS panel
NGS
Del Dup
Renal tubular dysgenesis NGS panel
NGS
Del Dup
RIPK4
Popliteal pterygium syndrome NGS panel
NGS
Del Dup
Popliteal pterygium syndrome, lethal type
NGS
Del Dup
RIPPLY2
Klippel-Feil syndrome NGS panel
Del Dup
NGS
Klippel-Feil syndrome, RIPPLY2 related
NGS
Sanger
Del Dup
Spondylocostal dysostosis 6, autosomal recessive
Del Dup
NGS
Sanger
Spondylocostal dysostosis NGS panel
NGS
Del Dup
RIT1
Noonan spectrum disorder NGS panel
NGS
Del Dup
Noonan syndrome core NGS panel
NGS
Del Dup
RMRP
Anauxetic dysplasia
Del Dup
NGS
Sanger
Cartilage-hair hypoplasia
Del Dup
NGS
Sanger
Metaphyseal dysplasia without hypotrichosis
NGS
Sanger
Del Dup
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia extended NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
RNF113A
Trichothiodystrophy NGS panel
NGS
Del Dup
RNU4ATAC
Microcephalic primordial dwarfism NGS panel
NGS
Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
ROM1
Leber congenital amaurosis and related disorders NGS panel
Del Dup
NGS
ROR2
Robinow syndrome NGS panel
Del Dup
NGS
Robinow syndrome, autosomal recessive
NGS
Sanger
Del Dup
RPE65
Leber congenital amaurosis and related disorders NGS panel
Del Dup
NGS
RPGRIP1
Leber congenital amaurosis and related disorders NGS panel
Del Dup
NGS
RPGRIP1L
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
Nephronophthisis and related disorders NGS panel
NGS
Del Dup
RPL11
Diamond-Blackfan anemia NGS panel
NGS
Del Dup
RPL15
Diamond-Blackfan anemia NGS panel
NGS
Del Dup
RPL21
Hypotrichosis NGS panel
Del Dup
NGS
RPL26
Diamond-Blackfan anemia NGS panel
NGS
Del Dup
RPL27
Diamond-Blackfan anemia NGS panel
Del Dup
NGS
RPL31
Diamond-Blackfan anemia NGS panel
Del Dup
NGS
RPL35A
Diamond-Blackfan anemia NGS panel
Del Dup
NGS
RPL5
Diamond-Blackfan anemia NGS panel
Del Dup
NGS
RPS10
Diamond-Blackfan anemia NGS panel
Del Dup
NGS
RPS17
Diamond-Blackfan anemia NGS panel
NGS
Del Dup
RPS19
Diamond-Blackfan anemia NGS panel
NGS
Del Dup
RPS24
Diamond-Blackfan anemia NGS panel
NGS
Del Dup
RPS26
Diamond-Blackfan anemia NGS panel
Del Dup
NGS
RPS27
Diamond-Blackfan anemia NGS panel
Del Dup
NGS
RPS28
Diamond-Blackfan anemia NGS panel
Del Dup
NGS
RPS29
Diamond-Blackfan anemia NGS panel
Del Dup
NGS
RPS7
Diamond-Blackfan anemia NGS panel
Del Dup
NGS
RRAS
Noonan spectrum disorder NGS panel
NGS
Del Dup
RS1
Vitreoretinopathy NGS panel
NGS
Del Dup
RSPRY1
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
RTEL1
Dyskeratosis congenita NGS panel
Del Dup
NGS
RUNX1
Thrombocytopenia NGS Panel
NGS
Del Dup
RUNX2
Cleidocranial dysplasia
Del Dup
NGS
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
RXYLT1
Lissencephaly and related disorders NGS panel
Del Dup
NGS
RYR2
Cardiac channelopathy NGS panel
Del Dup
NGS
Catecholaminergic polymorphic ventricular tachycardia NGS panel
Del Dup
NGS
Long QT syndrome NGS panel
Del Dup
NGS

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