September 08, 2017- Connective Tissue Gene Tests (CTGT) is pleased to announce 13 New or updated NGS panels

New Tests
Axial spondylometaphyseal dysplasia NGS panel C21orf2, NEK1
Del Dup
NGS
Desbuquois dysplasia and related disorders NGS panel B3GALT6, B3GAT3, CHST3, CSGALNACT1, GZF1, IMPAD1, FLNB, CANT1, KIF22, SLC26A2, XYLT1
Del Dup
NGS
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to NGS panel IGF1, IGF1R
Del Dup
NGS
Kenny-Caffey syndrome NGS panel FAM111A, TBCE
Del Dup
NGS
Marfan syndrome and Loeys-Dietz syndrome core NGS panel FBN1, TGFBR1, TGFBR2
Del Dup
NGS
Meier-Gorlin syndrome NGS panel CDC45, GMNN, MCM5, CDC6, CDT1, ORC1, ORC4, ORC6
Del Dup
NGS
Microcephalic primordial dwarfism NGS panel ATR, ATRIP, CDC45, CENPJ, CEP152, CEP63, DNA2, DONSON, GMNN, LIG4, NIN, PCNT, RBBP8, RNU4ATAC, TRAIP, XRCC4, CDC6, CDT1, ORC1, ORC4, ORC6
Del Dup
NGS
Multiple exostoses NGS panel EXT2, EXT1
Del Dup
NGS
Overgrowth syndrome NGS panel EED, EZH2, GPC3, NFIX, NSD1, OFD1, PIGA
Del Dup
NGS
Skeletal dysplasia ciliopathy NGS panel C21orf2, CEP120, DYNC2LI1, IFT140, IFT172, IFT52, KIAA0586, WDR34, EVC2, EVC, DYNC2H1, IFT80, IFT43, IFT122, NEK1, TTC21B, WDR19, WDR35, WDR60
Del Dup
NGS
Smith-McCort dysplasia NGS panel RAB33B, DYM
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel ACP5, B3GALT6, B3GAT3, BGN, C21orf2, CHST3, DDR2, GPX4, IHH, LONP1, NANS, PAM16, PAPSS2, PTH1R, RAB33B, RNU4ATAC, RSPRY1, SBDS, SMARCAL1, TRAPPC2, FGFR3, DYM, EIF2AK3, INPPL1, IMPAD1, FLNB, HSPG2, CANT1, COL9A1, COL9A2, COMP, COL9A3, COL10A1, COL11A1, COL11A2, COL2A1, KIF22, LIFR, MATN3, MMP13, MMP9, NEK1, NKX3-2, NPR2, PCYT1A, RMRP, RUNX2, SLC26A2, TRPV4, WISP3, XYLT1
Del Dup
NGS
Weaver and Cohen-Gibson syndrome NGS panel EED, EZH2
Del Dup
NGS

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