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

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

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