31 New or updated panels and tests | Connective Tissue Gene Tests

March 2, 2017 - Connective Tissue Gene Tests (CTGT) is pleased to announce 31 New or updated panels and 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, KDF1, KREMEN1, 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, AEBP1, 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, AEBP1, B3GALT6, B4GALT7, CHST14, DSE, FKBP14, ATP7A, COL1A2, 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, ARMC9, B9D1, B9D2, C2CD3, CC2D2A, CEP104, CEP120, CEP290, CEP41, CPLANE1 (C5orf42), CSPP1, INPP5E, KIAA0556, KIAA0586, KIF14, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, PIBF1, RPGRIP1L, SUFU, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, ZNF423, TTC21B	Del Dup NGS
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	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, COL4A3, COL4A4, COL4A6, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, FN1, INF2, ITGA3, ITGB4, KANK2, LAMB2, MAGI2, MEFV, MYO1E, NPHS1, NPHS2, NUP107, NUP205, NUP93, PAX2, PDSS2, PLCE1, PTPRO, SCARB2, SGPL1, SMARCAL1, TRPC6, WDR73, WT1, COL4A5, LMX1B, TTC21B	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, GBA, GFI1B, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, LYST, MYH9, NBEAL2, P2RY12, PLAU, PRKACG, RASGRP2, SLFN14, SMPD1, TBXA2R, TBXAS1, VWF, WAS, WIPF1	Del Dup NGS
Smith-Lemli-Opitz syndrome	DHCR7	Del Dup NGS
Snyder-Robinson mental retardation syndrome	SMS	Del Dup NGS
Thrombocytopenia NGS Panel	ADAMTS13, ANKRD26, AP3B1, CYCS, ETV6, FLI1, FYB, GATA1, GBA, HOXA11, ITGA2B, ITGB3, LYST, MASTL, MECOM, MPL, MYH9, NBEAL2, PRKACG, RUNX1, SLFN14, SMPD1, 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