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 | |
| Camurati-Engelmann disease | TGFB1 | |
| Chondrodysplasia punctata and related disorders NGS panel | AGPS, ARSE, EBP, FAR1, GNPAT, LBR, MGP, NSDHL, PEX5, PEX7 | |
| Craniosynostosis core NGS panel | TCF12, FGFR3, FGFR2, FGFR1, TWIST1 | |
| Dense bone dysplasia NGS panel | DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1, SLCO2A1, TBXAS1, TNFRSF11B, TYROBP, ANKH, COL1A1, SOST, TGFB1 | |
| Desbuquois dysplasia and related disorders NGS panel | B3GALT6, B3GAT3, CHST3, CSGALNACT1, GZF1, IMPAD1, FLNB, CANT1, KIF22, SLC26A2, XYLT1 | |
| Desbuquois dysplasia core NGS panel | CSGALNACT1, IMPAD1, CANT1, XYLT1 | |
| 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 | |
| Dyskeratosis congenita NGS panel | ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53 | |
| Ectodermal dysplasia NGS panel | EDA, EDAR, EDARADD, GJB6, HOXC13, KDF1, KRT74, KRT85, MSX1 | |
| Ehlers-Danlos syndrome core NGS panel | COL5A2, COL5A1, COL3A1 | |
| 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 | |
| Ehlers-Danlos syndrome NGS panel - Recessive | ADAMTS2, B3GALT6, B4GALT7, CHST14, COL12A1, DSE, FKBP14, ATP7A, PLOD1, PRDM5, SLC39A13, ZNF469 | |
| Exudative vitreoretinopathy NGS panel | CAPN5, KIF11, ZNF408, FZD4, LRP5, NDP, TSPAN12 | |
| Frontometaphyseal dysplasia NGS panel | MAP3K7, TAB2, FLNA | |
| Hyperphosphatemic familial tumoral calcinosis NGS panel | GALNT3, KL, FGF23 | |
| 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 | |
| Limb girdle muscular dystrophy NGS panel | ANO5, CAPN3, CAV3, DAG1, DES, DNAJB6, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GMPPB, HNRNPDL, ISPD, LARGE1, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN | |
| Marfan syndrome and Loeys-Dietz syndrome NGS panel | TGFB3, FBN1, SMAD3, TGFB2, TGFBR1, TGFBR2 | |
| Myofibrillar myopathy and related disorders NGS panel | ACTA1, BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, KY, LDB3, MYOT, PYROXD1 | |
| Nail-patella syndrome | LMX1B | |
| 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 | |
| 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 | |
| Osteogenesis imperfecta core NGS panel | IFITM5, COL1A2, COL1A1 | |
| 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 | |
| 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 | |
| Smith-Lemli-Opitz syndrome | DHCR7 | |
| Snyder-Robinson mental retardation syndrome | SMS | |
| 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 | |
| Vascular malformations NGS panel | ACVRL1, BMPR2, CAV1, EIF2AK4, ELMO2, FOXF1, GATA2, KCNK3, PTEN, SMAD9, ENG, GDF2, GLMN, CCM2, KRIT1, PDCD10, RASA1, SMAD4, TEK | |
| Vitreoretinopathy NGS panel | BEST1, CAPN5, COL18A1, KCNJ13, KIF11, NR2E3, RS1, ZNF408, FZD4, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL2A1, LRP5, NDP, TSPAN12, VCAN |