May 14, 2018- Connective Tissue Gene Tests (CTGT) is pleased to announce 17 New or updated NGS panels.  

   

New Tests
Alopecia universalis congenita and Atrichia with papular lesions HR
Del Dup
NGS
Auriculocondylar syndrome NGS panel EDN1, GNAI3, PLCB4
Del Dup
NGS
Blepharocheilodontic syndrome NGS panel CDH1, CTNND1
Del Dup
NGS
Cohen syndrome VPS13B
Del Dup
NGS
Cornelia de Lange syndrome and related disorders NGS panel AFF4, ANKRD11, HDAC8, KMT2A, NIPBL, RAD21, SMC1A, SMC3
Del Dup
NGS
Multiple epiphyseal dysplasia (MED) NGS panel CANT1, COL9A1, COL9A2, COMP, COL9A3, COL2A1, MATN3, SLC26A2
Del Dup
NGS
Noonan syndrome core NGS panel BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2
Del Dup
NGS
Omodysplasia NGS panel FZD2, GPC6
Del Dup
NGS
Opitz GBBB syndrome NGS panel MID1, SPECC1L
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive ANO5, FKBP10, MBTPS2, P3H1, P4HB, SEC24D, SPARC, TAPT1, TMEM38B, WNT1, XYLT2, IFITM5, BMP1, ALPL, CRTAP, CREB3L1, COL1A2, COL1A1, LRP5, PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive FKBP10, MBTPS2, P3H1, SEC24D, SPARC, TAPT1, TMEM38B, WNT1, XYLT2, BMP1, ALPL, CRTAP, CREB3L1, LRP5, PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7
Del Dup
NGS
Robinow syndrome NGS panel DVL1, DVL3, FZD2, NXN, ROR2, WNT5A
Del Dup
NGS
Short stature with endocrinopathy NGS panel BTK, GH1, GHR, GHRHR, GHSR, HESX1, IGF1, IGF1R, LHX3, LHX4, OTX2, POU1F1, PROP1, SOX3
Del Dup
NGS
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies BMP2
Del Dup
NGS
Skeletal dysplasia ciliopathy NGS panel C21orf2, C2CD3, CEP120, DYNC2LI1, ICK, IFT140, IFT172, IFT52, IFT81, KIAA0586, KIAA0753, TCTEX1D2, WDR34, EVC2, EVC, DYNC2H1, IFT80, IFT43, IFT122, NEK1, TTC21B, WDR19, WDR35, WDR60
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel ACAN, ACP5, B3GALT6, B3GAT3, BGN, C21orf2, CHST3, DDR2, FN1, GPX4, IDUA, 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
Stickler syndrome NGS panel LOXL3, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL2A1, VCAN
Del Dup
NGS

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