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

A2ML1
Noonan spectrum disorder NGS panel
NGS
Del Dup
AARS
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
ABCA12
Ichthyosis NGS panel - Nonsyndromic
Del Dup
NGS
ABCB11
Cholestasis NGS Panel
Del Dup
NGS
Cholestasis, benign recurrent intrahepatic, 2
Del Dup
NGS
Cholestasis, progressive familial intrahepatic, 2
Del Dup
NGS
ABCB4
Cholestasis NGS Panel
NGS
Del Dup
Cholestasis, intrahepatic, of pregnancy, 3
Del Dup
NGS
Cholestasis, progressive familial intrahepatic, 3
NGS
Del Dup
ABCC6
Arterial calcification, generalized, of infancy NGS panel
NGS
Del Dup
Arterial calcification, generalized, of infancy, 2
NGS
Del Dup
Pseudoxanthoma elasticum
NGS
Del Dup
Pseudoxanthoma elasticum NGS panel
NGS
Del Dup
ABCC9
Cantu syndrome
Del Dup
NGS
Cantu syndrome NGS panel
Del Dup
NGS
ACD
Dyskeratosis congenita NGS panel
Del Dup
NGS
ACP5
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
Spondyloenchondrodysplasia with immune dysregulation
Sanger
Del Dup
ACTA2
Aortic aneurysm, familial thoracic 6
Del Dup
Sanger
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed
NGS
Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Flexible
NGS
ACTB
Noonan spectrum disorder NGS panel
NGS
Del Dup
ACTG1
Noonan spectrum disorder NGS panel
Del Dup
NGS
ACTN1
Platelet bleeding disorders NGS panel
NGS
Del Dup
ACTN4
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
ACVR1
Fibrodysplasia ossificans progressiva
Sanger
Del Dup
ACVRL1
Hereditary Hemorrhagic telangiectasia NGS panel
NGS
Del Dup
Hereditary hemorrhagic telangiectasia type 2
Sanger
Del Dup
Pulmonary hypertension NGS panel
NGS
Del Dup
Vascular malformations NGS panel
NGS
Del Dup
ADAMTS10
Weill-Marchesani syndrome 1
Del Dup
NGS
Weill-Marchesani syndrome NGS panel
Del Dup
NGS
ADAMTS13
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
Del Dup
NGS
Thrombocytopenia NGS Panel
Del Dup
NGS
ADAMTS17
Weill-Marchesani syndrome NGS panel
Del Dup
NGS
Weill-Marchesani-like syndrome
Del Dup
NGS
ADAMTS2
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Recessive
Del Dup
NGS
ADAMTSL2
Geleophysic dysplasia 1
Sanger
Del Dup
ADAMTSL4
Ectopia lentis NGS panel
NGS
Del Dup
Ectopia lentis, isolated, autosomal recessive
NGS
Del Dup
AGPS
Chondrodysplasia punctata and related disorders NGS panel
Del Dup
NGS
Rhizomelic chondrodysplasia punctata, type 3
Sanger
Del Dup
AHI1
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
AIFM1
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
ALDH18A1
Cutis laxa NGS panel
Del Dup
NGS
Cutis laxa, autosomal recessive IIIA
NGS
Del Dup
ALOX12B
Ichthyosis NGS panel - Nonsyndromic
Del Dup
NGS
ALOXE3
Ichthyosis NGS panel - Nonsyndromic
Del Dup
NGS
ALPL
Abnormal mineralization disorders NGS panel
NGS
Del Dup
Hypophosphatasia, infantile, childhood & adult types
Sanger
Del Dup
Osteogenesis imperfecta NGS panel - Dominant
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia core NGS panel
Del Dup
NGS
ALX1
Frontonasal dysplasia 1 / 2 / 3 and Craniofrontonasal syndrome
Del Dup
Sanger
Frontonasal dysplasia 3
Del Dup
Sanger
ALX3
Frontonasal dysplasia 1
Sanger
Del Dup
Frontonasal dysplasia 1 / 2 / 3 and Craniofrontonasal syndrome
Sanger
Del Dup
ALX4
Frontonasal dysplasia 1 / 2 / 3 and Craniofrontonasal syndrome
Sanger
Del Dup
Frontonasal dysplasia 2
Del Dup
Sanger
AMELX
Amelogenesis imperfecta and related disorders NGS panel
NGS
Del Dup
AMER1
Osteopathia striata with cranial sclerosis
Del Dup
Sanger
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
Osteopetrosis NGS panel
NGS
Del Dup
ANKH
Abnormal mineralization disorders NGS panel
Del Dup
NGS
Chondrocalcinosis 2
Del Dup
NGS
Craniometaphyseal dysplasia, autosomal dominant
Del Dup
NGS
Dense bone dysplasia NGS panel
NGS
Del Dup
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
ANKRD11
KBG syndrome
Sanger
Del Dup
ANKRD26
Thrombocytopenia NGS Panel
NGS
Del Dup
ANLN
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
ANO5
Gnathodiaphyseal dysplasia
Del Dup
Sanger
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Dominant
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
ANO6
Platelet bleeding disorders NGS panel
NGS
Del Dup
AP3B1
Platelet bleeding disorders NGS panel
Del Dup
NGS
Thrombocytopenia NGS Panel
Del Dup
NGS
ARHGAP24
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
ARHGAP31
Adams-Oliver Syndrome 1
NGS
Del Dup
Adams-Oliver syndrome NGS panel
NGS
Del Dup
ARHGDIA
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
ARL13B
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
ARSE
Chondrodysplasia punctata 1, X-linked recessive
Sanger
Del Dup
Chondrodysplasia punctata and related disorders NGS panel
Del Dup
NGS
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia extended NGS panel
NGS
Del Dup
ATP6V0A2
Cutis laxa NGS panel
Del Dup
NGS
Cutis laxa, autosomal recessive IIA
Del Dup
NGS
ATP6V1B2
Zimmermann-Laband syndrome 1 / 2
Del Dup
Sanger
Zimmermann-Laband syndrome 2
Del Dup
Sanger
ATP7A
Distal hereditary motor neuropathy and related disorders NGS panel
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Recessive
NGS
Del Dup
Menkes disease
Del Dup
NGS
Occipital horn syndrome
Del Dup
NGS
Spinal muscular atrophy, distal, X-linked 3
NGS
Del Dup
ATP7B
Wilson disease
Del Dup
NGS
ATP8B1
Alagille syndrome NGS panel
NGS
Del Dup
Alagille syndrome, ATP8B1 related
Del Dup
NGS
Cholestasis NGS Panel
NGS
Del Dup
Cholestasis, benign recurrent intrahepatic, 1
Del Dup
NGS
Cholestasis, intrahepatic, of pregnancy, 1
Del Dup
NGS
Cholestasis, progressive familial intrahepatic, 1
Del Dup
NGS
ATR
Microcephalic primordial dwarfism NGS panel
NGS
Del Dup
ATRIP
Microcephalic primordial dwarfism NGS panel
NGS
Del Dup
AXIN2
Oligodontia - Selective tooth agenesis NGS panel
NGS
Del Dup

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