Dec 05, 2014 - Connective Tissue Gene Tests (CTGT) is pleased to announce 16 new or updated NGS panels and 6 new Sanger tests.

New Tests
Abnormal mineralization disorders NGS panel CLCN5, FAH, OCRL, SLC34A1, SLC34A3, SLC9A3R1, VDR, FGF23, DMP1, ENPP1, CYP27B1, CASR, ANKH, ALPL, PHEX
Del Dup
NGS
Acrofacial dysostosis 1, Nager type SF3B4
Sanger
Del Dup
Cerebral arteriopathy, with subcortical infarcts and leukoencephalopathy 1 NOTCH3
Del Dup
NGS
Craniosynostosis NGS panel CDC45, CYP26B1, EFNB1, ERF, FREM1, IL11RA, MEGF8, MSX2, POR, RAB23, RECQL4, TCF12, ZIC1, FGFR3, FGFR2, FGFR1, IFT43, IFT122, GLI3, SKI, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35
Del Dup
NGS
Dense bone dysplasia NGS panel DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1, SLCO2A1, TBXAS1, TNFRSF11B, TYROBP, ANKH, COL1A1, SOST, TGFB1
Del Dup
NGS
Desbuquois dysplasia and related disorders NGS panel B3GALT6, B3GAT3, CHST3, CSGALNACT1, GZF1, IMPAD1, FLNB, CANT1, KIF22, SLC26A2, XYLT1
Del Dup
NGS
Ichthyosis NGS panel ABCA12, ALOX12B, ALOXE3, CASP14, CDSN, CERS3, CHST8, CSTA, CYP4F22, FLG, GJA1, GJB3, GJB4, KDSR, KRT1, KRT10, KRT2, LIPN, LOR, NIPAL4, PNPLA1, POMP, SERPINB8, ST14, STS, SULT2B1, TGM1, TGM5
Del Dup
NGS
Multiple epiphyseal dysplasia (MED) NGS panel COL9A1, COL9A2, COMP, COL9A3, COL2A1, MATN3, SLC26A2
Del Dup
NGS
Odontoonychodermal dysplasia WNT10A
Sanger
Del Dup
Osteogenesis imperfecta NGS panel - Dominant ANO5, P4HB, IFITM5, ALPL, COL1A2, COL1A1, PLS3
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive ANO5, FKBP10, P3H1, P4HB, SEC24D, SPARC, TAPT1, TMEM38B, WNT1, IFITM5, BMP1, ALPL, CRTAP, CREB3L1, COL1A2, COL1A1, LRP5, PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive FKBP10, P3H1, SEC24D, SPARC, TAPT1, TMEM38B, WNT1, BMP1, ALPL, CRTAP, CREB3L1, LRP5, PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7
Del Dup
NGS
Osteopetrosis and Dense bone dysplasia NGS panel DLX3, FAM20C, FERMT3, GJA1, HPGD, LRP4, MTAP, PTDSS1, SLCO2A1, SNX10, TBXAS1, TNFRSF11B, TYROBP, CA2, ANKH, AMER1, CTSK, CLCN7, COL1A1, LEMD3, LRP5, OSTM1, PLEKHM1, SOST, TCIRG1, TGFB1, TNFRSF11A, TNFSF11
Del Dup
NGS
Osteopetrosis NGS panel FAM20C, FERMT3, SNX10, CA2, AMER1, CTSK, CLCN7, LEMD3, LRP5, OSTM1, PLEKHM1, TCIRG1, TNFRSF11A, TNFSF11
Del Dup
NGS
Rhizomelic chondrodysplasia punctata type 1 PEX7
Sanger
Del Dup
Schopf-Schulz-Passarge syndrome WNT10A
Sanger
Del Dup
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
Skeletal dysplasia core & extended NGS panel ARSE, DDR2, EBP, LBR, NSDHL, PEX7, PTH1R, SBDS, SLC35D1, FGFR3, INPPL1, FLNB, HSPG2, ALPL, COL10A1, COL11A1, COL11A2, COL2A1, COL1A2, COL1A1, LIFR, MMP13, MMP9, NKX3-2, RMRP, SLC26A2, SOX9, TRIP11, TRPV4
Del Dup
NGS
Skeletal dysplasia core NGS panel FGFR3, INPPL1, ALPL, COL2A1, COL1A2, COL1A1, NKX3-2, SLC26A2, SOX9, TRIP11
Del Dup
NGS
Skeletal dysplasia extended NGS panel ARSE, DDR2, EBP, LBR, NSDHL, PEX7, PTH1R, SBDS, SLC35D1, FLNB, HSPG2, COL10A1, COL11A1, COL11A2, LIFR, MMP13, MMP9, RMRP, TRPV4
Del Dup
NGS
Stickler syndrome NGS panel COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL2A1, VCAN
Del Dup
NGS
Tooth agenesis, selective 4 WNT10A
Sanger
Del Dup

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