March 2, 2017 - Connective Tissue Gene Tests (CTGT) is pleased to announce 31 New or updated panels and tests

New Tests
Amelogenesis imperfecta and related disorders NGS panel AMELX, C4ORF26, DLX3, DSPP, ENAM, FAM20A, FAM83H, GPR68, ITGB6, KLK4, LAMA3, LAMB3, MMP20, SLC24A4, SMOC2, WDR72
Del Dup
NGS
Camurati-Engelmann disease TGFB1
Del Dup
NGS
Chondrodysplasia punctata and related disorders NGS panel AGPS, ARSE, EBP, FAR1, GNPAT, LBR, MGP, NSDHL, PEX5, PEX7
Del Dup
NGS
Craniosynostosis core NGS panel TCF12, FGFR3, FGFR2, FGFR1, TWIST1
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
Desbuquois dysplasia core NGS panel CSGALNACT1, IMPAD1, CANT1, XYLT1
Del Dup
NGS
Distal hereditary motor neuropathy and related disorders NGS panel BICD2, BSCL2, DCAF8, DCTN1, DNAJB2, DYNC1H1, FBXO38, GAN, GARS, GJB1, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, PDK3, PLEKHG5, REEP1, SETX, SIGMAR1, SLC5A7, ATP7A, TRPV4
Del Dup
NGS
Dyskeratosis congenita NGS panel ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53
Del Dup
NGS
Ectodermal dysplasia NGS panel EDA, EDAR, EDARADD, GJB6, HOXC13, KRT74, KRT85, MSX1
Del Dup
NGS
Ehlers-Danlos syndrome core NGS panel COL5A2, COL5A1, COL3A1
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive ADAMTS2, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, DSE, FKBP14, FLNA, ATP7A, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1, PLOD1, PRDM5, SLC39A13, ZNF469
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Recessive ADAMTS2, B3GALT6, B4GALT7, CHST14, COL12A1, DSE, FKBP14, ATP7A, PLOD1, PRDM5, SLC39A13, ZNF469
Del Dup
NGS
Exudative vitreoretinopathy NGS panel CAPN5, KIF11, ZNF408, FZD4, LRP5, NDP, TSPAN12
Del Dup
NGS
Frontometaphyseal dysplasia NGS panel MAP3K7, TAB2, FLNA
Del Dup
NGS
Hyperphosphatemic familial tumoral calcinosis NGS panel GALNT3, KL, FGF23
Del Dup
NGS
Joubert syndrome and related disorders NGS panel AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP104, CEP290, CEP41, CSPP1, INPP5E, KIAA0556, KIAA0586, KIF14, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, ZNF423, TTC21B
Del Dup
NGS
Limb girdle muscular dystrophy NGS panel ANO5, CAPN3, CAV3, DAG1, DES, DNAJB6, DYSF, FKRP, FKTN, FLNC, GAA, GMPPB, HNRNPDL, ISPD, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRAPPC11, TRIM32, TTN
Del Dup
NGS
Marfan syndrome and Loeys-Dietz syndrome NGS panel TGFB3, FBN1, SMAD3, TGFB2, TGFBR1, TGFBR2
Del Dup
NGS
Myofibrillar myopathy and related disorders NGS panel ACTA1, BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, KY, LDB3, MYOT, PYROXD1
Del Dup
NGS
Nail-patella syndrome LMX1B
Del Dup
NGS
Nephrotic syndrome and related disorders NGS panel ACTN4, ANLN, ARHGAP24, ARHGDIA, CD2AP, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, INF2, ITGA3, ITGB4, LAMB2, MYO1E, NPHS1, NPHS2, NUP107, NUP205, NUP93, PAX2, PDSS2, PLCE1, PTPRO, SCARB2, SMARCAL1, TRPC6, WDR73, WT1, LMX1B
Del Dup
NGS
Noonan spectrum disorder NGS panel A2ML1, ACTB, ACTG1, BRAF, CABIN1, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1
Del Dup
NGS
Osteogenesis imperfecta core NGS panel IFITM5, COL1A2, COL1A1
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
Platelet bleeding disorders NGS panel ACTN1, ANO6, AP3B1, BLOC1S3, BLOC1S6, CD36, DTNBP1, GFI1B, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, LYST, MYH9, NBEAL2, P2RY12, PLAU, PRKACG, RASGRP2, SLFN14, TBXA2R, TBXAS1, VWF, WAS, WIPF1
Del Dup
NGS
Smith-Lemli-Opitz syndrome DHCR7
Del Dup
NGS
Snyder-Robinson mental retardation syndrome SMS
Sanger
Del Dup
Thrombocytopenia NGS Panel ADAMTS13, ANKRD26, AP3B1, CYCS, ETV6, FLI1, FYB, GATA1, HOXA11, ITGA2B, ITGB3, LYST, MASTL, MECOM, MPL, MYH9, NBEAL2, PRKACG, RUNX1, SLFN14, SRC, TBXAS1, TUBB1, WAS, WIPF1, RBM8A
Del Dup
NGS
Vascular malformations NGS panel ACVRL1, BMPR2, CAV1, EIF2AK4, ELMO2, FOXF1, GATA2, KCNK3, PTEN, SMAD9, ENG, GDF2, GLMN, CCM2, KRIT1, PDCD10, RASA1, SMAD4, TEK
Del Dup
NGS
Vitreoretinopathy NGS panel BEST1, CAPN5, COL18A1, KCNJ13, KIF11, NR2E3, RS1, ZNF408, FZD4, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL2A1, LRP5, NDP, TSPAN12, VCAN
Del Dup
NGS

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