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

MAP2K1
Noonan spectrum disorder NGS panel
NGS
Del Dup
MAP2K2
Noonan spectrum disorder NGS panel
NGS
Del Dup
MAP3K7
Frontometaphyseal dysplasia NGS panel
Del Dup
NGS
MASTL
Thrombocytopenia NGS Panel
NGS
Del Dup
MAT2A
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed
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
Del Dup
NGS
MCOLN1
Mucopolysaccharidosis NGS panel
Del Dup
NGS
MECOM
Thrombocytopenia NGS Panel
NGS
Del Dup
MED12
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed
Del Dup
NGS
MED25
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
MEGF8
Craniosynostosis NGS panel
Del Dup
NGS
MEOX1
Klippel-Feil syndrome 2
Sanger
Del Dup
Klippel-Feil syndrome NGS panel
Del Dup
NGS
MESP2
Spondylocostal dysostosis 2, autosomal recessive
Sanger
Del Dup
Spondylocostal dysostosis NGS panel
Del Dup
NGS
MFAP5
Aortic aneurysm, familial thoracic 9
Sanger
Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed
NGS
Del Dup
MFN2
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
MGP
Chondrodysplasia punctata and related disorders NGS panel
NGS
Del Dup
MITF
Waardenburg syndrome NGS panel
NGS
Del Dup
MKS1
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
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
Del Dup
NGS
Metaphyseal anadysplasia NGS panel
Del Dup
NGS
Metaphyseal dysplasia, Spahr type
Del Dup
NGS
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia extended NGS panel
NGS
Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
Spondyloepimetaphyseal dysplasia, Missouri type
NGS
Del Dup
MMP2
Torg-Winchester syndrome
Sanger
Del Dup
MMP20
Amelogenesis imperfecta and related disorders NGS panel
NGS
Del Dup
MMP9
Metaphyseal anadysplasia 2
Del Dup
NGS
Metaphyseal anadysplasia NGS panel
NGS
Del Dup
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia extended NGS panel
NGS
Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
MPL
Thrombocytopenia NGS Panel
NGS
Del Dup
MPZ
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
MSH2
Neurofibromatosis and related disorders NGS panel
Del Dup
NGS
MSH6
Neurofibromatosis and related disorders NGS panel
Del Dup
NGS
MSX1
Ectodermal dysplasia NGS panel
Del Dup
NGS
Oligodontia - Selective tooth agenesis NGS panel
Del Dup
NGS
Tooth agenesis, selective, 1
Sanger
Del Dup
Witkop syndrome
Sanger
Del Dup
MSX2
Craniosynostosis NGS panel
Del Dup
NGS
MTAP
Dense bone dysplasia NGS panel
Del Dup
NGS
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
MTMR2
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
MYBPC1
Distal arthrogryposes NGS panel
NGS
Del Dup
MYH11
Aortic aneurysm, familial thoracic 4
Del Dup
NGS
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
MYH3
Distal arthrogryposes NGS panel
NGS
Del Dup
MYH7
Distal Myopathy
Del Dup
NGS
MYH8
Distal arthrogryposes NGS panel
NGS
Del Dup
MYH9
Platelet bleeding disorders NGS panel
Del Dup
NGS
Thrombocytopenia NGS Panel
Del Dup
NGS
MYLK
Aortic aneurysm, familial thoracic 7
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed
NGS
Del Dup
MYO18B
Klippel-Feil syndrome NGS panel
Del Dup
NGS
MYO1E
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
MYOT
Distal Myopathy
Del Dup
NGS
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
Myofibrillar myopathy and related disorders NGS panel
Del Dup
NGS

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