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

A2ML1
Noonan spectrum disorder NGS panel
Del Dup
NGS
AARS
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
ABCA12
Ichthyosis NGS panel
NGS
Del Dup
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
Del Dup
NGS
ABCC6
Arterial calcification, generalized, of infancy NGS panel
NGS
Del Dup
Arterial calcification, generalized, of infancy, 2
Del Dup
NGS
Pseudoxanthoma elasticum
NGS
Del Dup
Pseudoxanthoma elasticum NGS panel
NGS
Del Dup
ABCC9
Atrial fibrillation NGS panel
Del Dup
NGS
Brugada syndrome and related disorders NGS panel
Del Dup
NGS
Cantu syndrome
Del Dup
NGS
Cantu syndrome NGS panel
Del Dup
NGS
Cardiac channelopathy NGS panel
Del Dup
NGS
ACD
Dyskeratosis congenita NGS panel
Del Dup
NGS
ACP5
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
Spondyloenchondrodysplasia with immune dysregulation
Del Dup
Sanger
ACTA1
Myofibrillar myopathy and related disorders NGS panel
NGS
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
Del Dup
NGS
ACTB
Noonan spectrum disorder NGS panel
Del Dup
NGS
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
Del Dup
NGS
ACVRL1
Hereditary Hemorrhagic telangiectasia NGS panel
Del Dup
NGS
Hereditary hemorrhagic telangiectasia type 2
Sanger
Del Dup
Pulmonary hypertension NGS panel
Del Dup
NGS
Vascular malformations NGS panel
NGS
Del Dup
ADAMTS10
Weill-Marchesani syndrome 1
NGS
Del Dup
Weill-Marchesani syndrome NGS panel
NGS
Del Dup
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
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Recessive
NGS
Del Dup
ADAMTSL2
Geleophysic dysplasia 1
Del Dup
NGS
ADAMTSL4
Ectopia lentis NGS panel
Del Dup
NGS
Ectopia lentis, isolated, autosomal recessive
Del Dup
NGS
ADCY6
Congenital contracture syndrome extended NGS panel
Del Dup
NGS
Lethal congenital contractual syndrome and related disorders NGS Panel
Del Dup
NGS
ADGRG6
Congenital contracture syndrome extended NGS panel
NGS
Del Dup
Lethal congenital contractual syndrome and related disorders NGS Panel
NGS
Del Dup
AGPS
Chondrodysplasia punctata and related disorders NGS panel
NGS
Del Dup
Rhizomelic chondrodysplasia punctata, type 3
Del Dup
NGS
AHI1
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
AIFM1
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
AIPL1
Leber congenital amaurosis and related disorders NGS panel
Del Dup
NGS
AKAP9
Cardiac channelopathy NGS panel
Del Dup
NGS
Long QT syndrome NGS panel
Del Dup
NGS
ALDH18A1
Cutis laxa NGS panel
Del Dup
NGS
Cutis laxa, autosomal recessive IIIA
NGS
Del Dup
ALMS1
Leber congenital amaurosis and related disorders NGS panel
Del Dup
NGS
ALOX12B
Ichthyosis NGS panel
Del Dup
NGS
ALOXE3
Ichthyosis NGS panel
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
NGS
Del Dup
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia core NGS panel
NGS
Del Dup
ALS2
Amyotrophic lateral sclerosis and related disorders NGS panel
Del Dup
NGS
ALX1
Frontonasal dysplasia 3
Sanger
Del Dup
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel
Del Dup
NGS
ALX3
Frontonasal dysplasia 1
Del Dup
Sanger
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel
NGS
Del Dup
ALX4
Frontonasal dysplasia 2
Sanger
Del Dup
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel
Del Dup
NGS
AMELX
Amelogenesis imperfecta and related disorders NGS panel
NGS
Del Dup
AMER1
Osteopathia striata with cranial sclerosis
Del Dup
NGS
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
Osteopetrosis NGS panel
Del Dup
NGS
ANG
Amyotrophic lateral sclerosis and related disorders NGS panel
NGS
Del Dup
ANK2
Brugada syndrome and related disorders NGS panel
NGS
Del Dup
Cardiac channelopathy NGS panel
NGS
Del Dup
Catecholaminergic polymorphic ventricular tachycardia NGS panel
Del Dup
NGS
Long QT syndrome NGS panel
Del Dup
NGS
ANKH
Abnormal mineralization disorders NGS panel
NGS
Del Dup
Chondrocalcinosis 2
Del Dup
NGS
Craniometaphyseal dysplasia, autosomal dominant
NGS
Del Dup
Dense bone dysplasia NGS panel
NGS
Del Dup
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
ANKRD11
KBG syndrome
NGS
Del Dup
ANKRD26
Thrombocytopenia NGS Panel
NGS
Del Dup
ANLN
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
ANO5
Distal Myopathy
NGS
Del Dup
Gnathodiaphyseal dysplasia
Del Dup
NGS
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant
Del Dup
NGS
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
APCDD1
Hypotrichosis NGS panel
NGS
Del Dup
ARHGAP24
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
ARHGAP31
Adams-Oliver Syndrome 1
Del Dup
NGS
Adams-Oliver syndrome NGS panel
Del Dup
NGS
ARHGDIA
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
ARHGEF28
Amyotrophic lateral sclerosis and related disorders NGS panel
NGS
Del Dup
ARL13B
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
ARSB
Mucopolysaccharidosis NGS panel
NGS
Del Dup
ARSE
Chondrodysplasia punctata 1, X-linked recessive
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
Del Dup
NGS
ATP6V0A2
Cutis laxa NGS panel
Del Dup
NGS
Cutis laxa, autosomal recessive IIA
Del Dup
NGS
ATP6V1A
Cutis laxa NGS panel
NGS
Del Dup
ATP6V1B2
Zimmermann-Laband syndrome 2
NGS
Del Dup
Zimmermann-Laband syndrome NGS panel
NGS
Del Dup
ATP6V1E1
Cutis laxa NGS panel
NGS
Del Dup
ATP7A
Distal hereditary motor neuropathy and related disorders NGS panel
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Recessive
Del Dup
NGS
Menkes disease
NGS
Del Dup
Occipital horn syndrome
NGS
Del Dup
Spinal muscular atrophy, distal, X-linked 3
NGS
Del Dup
ATP7B
Wilson disease
Del Dup
NGS
ATP8B1
Alagille syndrome NGS panel
Del Dup
NGS
Alagille syndrome, ATP8B1 related
NGS
Del Dup
Cholestasis NGS Panel
NGS
Del Dup
Cholestasis, benign recurrent intrahepatic, 1
NGS
Del Dup
Cholestasis, intrahepatic, of pregnancy, 1
NGS
Del Dup
Cholestasis, progressive familial intrahepatic, 1
Del Dup
NGS
ATR
Microcephalic primordial dwarfism NGS panel
Del Dup
NGS
ATRIP
Microcephalic primordial dwarfism NGS panel
NGS
Del Dup
AXIN2
Oligodontia - Selective tooth agenesis NGS panel
NGS
Del Dup

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