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
Del Dup
NGS
ABCB11
Cholestasis NGS Panel
NGS
Del Dup
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
NGS
Del Dup
Cholestasis, progressive familial intrahepatic, 3
NGS
Del Dup
ABCC6
Arterial calcification, generalized, of infancy NGS panel
Del Dup
NGS
Arterial calcification, generalized, of infancy, 2
Del Dup
NGS
Pseudoxanthoma elasticum
Del Dup
NGS
Pseudoxanthoma elasticum NGS panel
Del Dup
NGS
ABCC9
Atrial fibrillation NGS panel
NGS
Del Dup
Brugada syndrome and related disorders NGS panel
NGS
Del Dup
Cantu syndrome
NGS
Del Dup
Cantu syndrome NGS panel
NGS
Del Dup
Cardiac channelopathy NGS panel
Del Dup
NGS
ACAN
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
ACD
Dyskeratosis congenita NGS panel
Del Dup
NGS
ACE
Renal tubular dysgenesis NGS panel
NGS
Del Dup
ACP5
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
Spondyloenchondrodysplasia with immune dysregulation
NGS
Sanger
Del Dup
ACTA1
Myofibrillar myopathy and related disorders NGS panel
Del Dup
NGS
ACTA2
Aortic aneurysm, familial thoracic 6
NGS
Sanger
Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
NGS
Del Dup
ACTB
Lissencephaly and related disorders NGS panel
Del Dup
NGS
Noonan spectrum disorder NGS panel
Del Dup
NGS
ACTG1
Lissencephaly and related disorders NGS panel
Del Dup
NGS
Noonan spectrum disorder NGS panel
Del Dup
NGS
ACTN1
Platelet bleeding disorders NGS panel
Del Dup
NGS
ACTN4
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
ACVR1
Fibrodysplasia ossificans progressiva
NGS
Del Dup
ACVRL1
Hereditary Hemorrhagic telangiectasia NGS panel
NGS
Del Dup
Hereditary hemorrhagic telangiectasia type 2
Del Dup
NGS
Sanger
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
NGS
Del Dup
Thrombocytopenia NGS Panel
NGS
Del Dup
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
Del Dup
NGS
ADAMTSL4
Ectopia lentis NGS panel
NGS
Del Dup
Ectopia lentis, isolated, autosomal recessive
NGS
Del Dup
ADCY10
Nephrolithiasis and related disorders NGS panel
Del Dup
NGS
ADCY6
Congenital contracture syndrome extended NGS panel
Del Dup
NGS
Lethal congenital contracture syndrome and related disorders NGS Panel
NGS
Del Dup
ADGRG1
Lissencephaly and related disorders NGS panel
Del Dup
NGS
ADGRG6
Congenital contracture syndrome extended NGS panel
NGS
Del Dup
Lethal congenital contracture syndrome and related disorders NGS Panel
NGS
Del Dup
AFF4
Cornelia de Lange syndrome and related disorders NGS panel
Del Dup
NGS
AGPAT2
Progeroid syndromes 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
AGT
Renal tubular dysgenesis NGS panel
NGS
Del Dup
AGTR1
Renal tubular dysgenesis NGS panel
Del Dup
NGS
AGXT
Nephrolithiasis and related disorders NGS panel
Del Dup
NGS
AHI1
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
Nephronophthisis 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
NGS
Del Dup
AKT3
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus NGS panel
NGS
Del Dup
ALDH18A1
Cutis laxa NGS panel
NGS
Del Dup
Cutis laxa, autosomal recessive IIIA
NGS
Del Dup
Progeroid syndromes and related disorders NGS panel
Del Dup
NGS
ALG9
Polycystic kidney disease and related disorders NGS panel
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
Del Dup
NGS
Hypophosphatasia, infantile, childhood & adult types
NGS
Sanger
Del Dup
Osteogenesis imperfecta NGS panel - Dominant
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia core NGS panel
Del Dup
NGS
ALS2
Amyotrophic lateral sclerosis and related disorders NGS panel
NGS
Del Dup
ALX1
Frontonasal dysplasia 3
Del Dup
NGS
Sanger
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel
NGS
Del Dup
ALX3
Frontonasal dysplasia 1
NGS
Sanger
Del Dup
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel
NGS
Del Dup
ALX4
Frontonasal dysplasia 2
Del Dup
NGS
Sanger
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel
NGS
Del Dup
AMELX
Amelogenesis imperfecta and related disorders NGS panel
Del Dup
NGS
AMER1
Osteopathia striata with cranial sclerosis
NGS
Del Dup
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
Osteopetrosis NGS panel
NGS
Del Dup
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
Del Dup
NGS
Catecholaminergic polymorphic ventricular tachycardia NGS panel
Del Dup
NGS
Long QT syndrome NGS panel
Del Dup
NGS
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
Del Dup
NGS
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
ANKRD11
Cornelia de Lange syndrome and related disorders NGS panel
NGS
Del Dup
KBG syndrome
NGS
Del Dup
ANKRD26
Thrombocytopenia NGS Panel
NGS
Del Dup
ANKS6
Nephronophthisis and related disorders NGS panel
Del Dup
NGS
Polycystic kidney disease and related disorders NGS panel
Del Dup
NGS
ANLN
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
ANO5
Distal Myopathy NGS panel
NGS
Del Dup
Gnathodiaphyseal dysplasia
NGS
Del Dup
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Dominant
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive
NGS
Del Dup
ANO6
Platelet bleeding disorders NGS panel
Del Dup
NGS
AP2S1
Nephrolithiasis and related disorders NGS panel
Del Dup
NGS
AP3B1
Platelet bleeding disorders NGS panel
Del Dup
NGS
Thrombocytopenia NGS Panel
Del Dup
NGS
APC2
Sotos syndrome and related disorders NGS panel
NGS
Del Dup
APCDD1
Hypotrichosis NGS panel
NGS
Del Dup
APRT
Nephrolithiasis and related disorders NGS panel
Del Dup
NGS
ARHGAP24
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
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
ARHGEF28
Amyotrophic lateral sclerosis and related disorders NGS panel
NGS
Del Dup
ARL13B
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
ARMC9
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
ARSB
Mucopolysaccharidosis NGS panel
Del Dup
NGS
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
NGS
Del Dup
ARX
Lissencephaly and related disorders NGS panel
Del Dup
NGS
Lissencephaly core NGS panel
NGS
Del Dup
ATP1A1
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
ATP2A2
Darier-White disease
NGS
Del Dup
ATP2C1
Benign chronic pemphigus
NGS
Del Dup
ATP6V0A2
Cutis laxa NGS panel
Del Dup
NGS
Cutis laxa, autosomal recessive IIA
NGS
Del Dup
Lissencephaly and related disorders NGS panel
Del Dup
NGS
ATP6V0A4
Nephrolithiasis and related disorders NGS panel
NGS
Del Dup
Polycystic kidney disease and related disorders NGS panel
NGS
Del Dup
ATP6V1A
Cutis laxa NGS panel
NGS
Del Dup
ATP6V1B1
Nephrolithiasis and related disorders NGS panel
NGS
Del Dup
ATP6V1B2
Zimmermann-Laband syndrome 2
Del Dup
NGS
Zimmermann-Laband syndrome NGS panel
Del Dup
NGS
ATP6V1E1
Cutis laxa NGS panel
NGS
Del Dup
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
Del Dup
NGS
ATP7B
Wilson disease
NGS
Del Dup
ATP8B1
Alagille syndrome NGS panel
Del Dup
NGS
Alagille syndrome, ATP8B1 related
NGS
Del Dup
Cholestasis NGS Panel
Del Dup
NGS
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
NGS
Del Dup
ATRIP
Microcephalic primordial dwarfism NGS panel
NGS
Del Dup
AXIN2
Oligodontia - Selective tooth agenesis NGS panel
Del Dup
NGS

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