August 23, 2016 - Connective Tissue Gene Tests (CTGT) is pleased to announce 28 New or updated NGS panels and 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
Arterial calcification, generalized, of infancy NGS panel ABCC6, ENPP1
Del Dup
NGS
Arterial calcification, generalized, of infancy, 2 ABCC6
Del Dup
NGS
Chondrodysplasia punctata and related disorders NGS panel AGPS, ARSE, EBP, FAR1, GNPAT, LBR, MGP, NSDHL, PEX5, PEX7
Del Dup
NGS
Deletion / Duplication test (Any of the NGS-Del/Dup panel genes)
Del Dup
Dense bone dysplasia NGS panel DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1, SLCO2A1, TBXAS1, TNFRSF11B, TYROBP, ANKH, COL1A1, SOST, TGFB1
Del Dup
NGS
Dyggve-Melchior-Clausen disease DYM
Del Dup
NGS
Metaphyseal anadysplasia NGS panel MMP13, MMP9
Del Dup
NGS
Neurofibromatosis type I NF1
Del Dup
NGS
Next Generation Sequencing (Any of the NGS panel Genes)
NGS
Noonan spectrum disorder NGS panel A2ML1, ACTB, ACTG1, BRAF, CABIN1, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, NSUN2, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1
Del Dup
NGS
Orofaciodigital syndrome I OFD1
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
Paget disease of bone and related disorders NGS panel HNRNPA1, HNRNPA2B1, SQSTM1, TNFRSF11B, VCP, ZNF687, TNFRSF11A
Del Dup
NGS
Pseudoxanthoma elasticum ABCC6
Del Dup
NGS
Pseudoxanthoma elasticum NGS panel ABCC6, GGCX
NGS
Del Dup
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency GGCX
Del Dup
NGS
Rhizomelic chondrodysplasia punctata, type 2 GNPAT
Del Dup
NGS
Robinow syndrome NGS panel DVL1, DVL3, ROR2, WNT5A
Del Dup
NGS
Simpson-Golabi-Behmel syndrome, type 2 OFD1
Del Dup
NGS
Simpson-Golabi-Behmel, Sotos and Weaver syndrome NGS panel EZH2, GPC3, NFIX, NSD1, OFD1, PIGA
Del Dup
NGS
Skeletal dysplasia ciliopathy NGS panel IFT140, IFT172, KIAA0586, WDR34, EVC2, EVC, DYNC2H1, IFT80, IFT43, IFT122, NEK1, TTC21B, WDR19, WDR35, WDR60
Del Dup
NGS
Smith-McCort dysplasia DYM
Del Dup
NGS
Sotos syndrome 1 NSD1
Del Dup
NGS
Spondyloepimetaphyseal dysplasia with joint laxity type 2 KIF22
Sanger
Del Dup
NGS
Steel syndrome COL27A1
Del Dup
NGS
Sanger
Weaver syndrome EZH2
Del Dup
NGS

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