Browse CTGT's catalogue of NGS disorders and panels by disorder name.

M

Mandibulofacial dysostosis, Guion-Almeida type EFTUD2
Del Dup
NGS
Marfan syndrome and Loeys-Dietz syndrome core NGS panel (3 genes) FBN1, TGFBR1, TGFBR2
Del Dup
NGS
Marfan syndrome and Loeys-Dietz syndrome NGS panel (6 genes) FBN1, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
NGS
Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel (27 genes) ACTA2, BGN, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, FOXE3, LOX, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
NGS
Del Dup
Marfan syndrome, type I FBN1
Del Dup
NGS
Marfan syndrome, type I / II NGS panel (2 genes) FBN1, TGFBR2
Del Dup
NGS
Marfan syndrome, type II TGFBR2
Del Dup
NGS
Marshall syndrome COL11A1
Del Dup
NGS
Marshall-Smith syndrome NFIX
Del Dup
NGS
Meier-Gorlin syndrome 1 ORC1
Del Dup
NGS
Meier-Gorlin syndrome 2 ORC4
Del Dup
NGS
Meier-Gorlin syndrome 3 ORC6
Del Dup
NGS
Meier-Gorlin syndrome 4 CDT1
NGS
Del Dup
Meier-Gorlin syndrome 5 CDC6
Del Dup
NGS
Meier-Gorlin syndrome NGS panel (8 genes) CDC45, CDC6
Del Dup
NGS

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