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

MAGED2
Bartter syndrome and related disorders NGS panel
Del Dup
NGS
MAGI2
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
MAP2K1
Noonan spectrum disorder NGS panel
NGS
Del Dup
Noonan syndrome core NGS panel
NGS
Del Dup
MAP2K2
Noonan spectrum disorder NGS panel
Del Dup
NGS
Noonan syndrome core NGS panel
Del Dup
NGS
MAP3K7
Frontometaphyseal dysplasia NGS panel
Del Dup
NGS
MAPKBP1
Nephronophthisis and related disorders NGS panel
Del Dup
NGS
MASTL
Thrombocytopenia NGS Panel
NGS
Del Dup
MAT2A
Connective tissue disorder NGS panel
NGS
Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
NGS
Del Dup
MATN3
Multiple epiphyseal dysplasia (MED) NGS panel
NGS
Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
MATR3
Amyotrophic lateral sclerosis and related disorders NGS panel
Del Dup
NGS
Distal Myopathy NGS panel
Del Dup
NGS
MBTPS2
Ichthyosis NGS panel
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
MCM5
Meier-Gorlin syndrome NGS panel
NGS
Del Dup
MCOLN1
Mucopolysaccharidosis NGS panel
NGS
Del Dup
MECOM
Thrombocytopenia NGS Panel
Del Dup
NGS
MED12
Connective tissue disorder NGS panel
NGS
Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
Del Dup
NGS
MED25
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
MEFV
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
MEGF8
Craniosynostosis NGS panel
NGS
Del Dup
MEOX1
Klippel-Feil syndrome 2
NGS
Sanger
Del Dup
Klippel-Feil syndrome NGS panel
NGS
Del Dup
MERTK
Leber congenital amaurosis and related disorders NGS panel
Del Dup
NGS
MESP2
Spondylocostal dysostosis 2, autosomal recessive
NGS
Sanger
Del Dup
Spondylocostal dysostosis NGS panel
NGS
Del Dup
MFAP5
Aortic aneurysm, familial thoracic 9
Del Dup
NGS
Sanger
Connective tissue disorder NGS panel
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
NGS
Del Dup
MFN2
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
MGP
Chondrodysplasia punctata and related disorders NGS panel
Del Dup
NGS
MID1
Opitz GBBB syndrome NGS panel
NGS
Del Dup
MIR184
Keratoconus and related disorders NGS panel
NGS
Del Dup
MITF
Waardenburg syndrome NGS panel
NGS
Del Dup
MKS1
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
MLH1
Neurofibromatosis and related disorders NGS panel
NGS
Del Dup
MMACHC
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
Del Dup
NGS
MMP13
Metaphyseal anadysplasia 1
NGS
Del Dup
Metaphyseal anadysplasia NGS panel
NGS
Del Dup
Metaphyseal dysplasia, Spahr type
Del Dup
NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel
NGS
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
NGS
Del Dup
Spondyloepimetaphyseal dysplasia, Missouri type
Del Dup
NGS
MMP2
Torg-Winchester syndrome
NGS
Del Dup
MMP20
Amelogenesis imperfecta and related disorders NGS panel
Del Dup
NGS
MMP9
Metaphyseal anadysplasia 2
Del Dup
NGS
Metaphyseal anadysplasia NGS panel
Del Dup
NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel
NGS
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
NGS
Del Dup
MPL
Thrombocytopenia NGS Panel
Del Dup
NGS
MPLKIP
Trichothiodystrophy NGS panel
Del Dup
NGS
MPZ
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
MSH2
Neurofibromatosis and related disorders NGS panel
NGS
Del Dup
MSH6
Neurofibromatosis and related disorders NGS panel
Del Dup
NGS
MSX1
Cleft lip, cleft palate and related disorders NGS panel
Del Dup
NGS
Ectodermal dysplasia NGS panel
Del Dup
NGS
Oligodontia - Selective tooth agenesis NGS panel
Del Dup
NGS
Tooth agenesis, selective, 1
Del Dup
NGS
Sanger
Witkop syndrome
Sanger
Del Dup
NGS
MSX2
Craniosynostosis NGS panel
NGS
Del Dup
MTAP
Dense bone dysplasia NGS panel
Del Dup
NGS
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
MTMR2
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
MUC1
Polycystic kidney disease and related disorders NGS panel
NGS
Del Dup
MUSK
Congenital contracture syndrome extended NGS panel
Del Dup
NGS
Lethal congenital contracture syndrome and related disorders NGS Panel
Del Dup
NGS
MYBPC1
Congenital contracture syndrome extended NGS panel
Del Dup
NGS
Distal arthrogryposes NGS panel
Del Dup
NGS
Lethal congenital contracture syndrome and related disorders NGS Panel
Del Dup
NGS
MYH11
Aortic aneurysm, familial thoracic 4
NGS
Del Dup
Connective tissue disorder NGS panel
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
NGS
Del Dup
MYH3
Congenital contracture syndrome extended NGS panel
Del Dup
NGS
Distal arthrogryposes NGS panel
Del Dup
NGS
MYH7
Distal Myopathy NGS panel
Del Dup
NGS
MYH8
Congenital contracture syndrome extended NGS panel
NGS
Del Dup
Distal arthrogryposes NGS panel
NGS
Del Dup
MYH9
Platelet bleeding disorders NGS panel
NGS
Del Dup
Thrombocytopenia NGS Panel
Del Dup
NGS
MYL4
Atrial fibrillation NGS panel
Del Dup
NGS
MYLK
Aortic aneurysm, familial thoracic 7
Del Dup
NGS
Connective tissue disorder NGS panel
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
Del Dup
NGS
MYO18B
Klippel-Feil syndrome NGS panel
Del Dup
NGS
MYO1E
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
MYO7A
Leber congenital amaurosis and related disorders NGS panel
Del Dup
NGS
MYOT
Distal Myopathy NGS panel
NGS
Del Dup
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
Myofibrillar myopathy and related disorders NGS panel
NGS
Del Dup

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