November 14, 2016 - Connective Tissue Gene Tests (CTGT) is pleased to announce 10 New or updated NGS panels and tests

New Tests
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy NOTCH3
Del Dup
NGS
Hyperphosphatemic familial tumoral calcinosis - GALNT3 GALNT3
Sanger
Del Dup
Hyperphosphatemic familial tumoral calcinosis NGS panel GALNT3, KL, FGF23
Del Dup
NGS
Lateral meningocele syndrome NOTCH3
Sanger
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed ACTA2, FOXE3, LOX, MAT2A, MED12, MFAP5, NOTCH1, TGFB3, FBN1, FBN2, FLNA, CBS, COL5A2, COL5A1, COL3A1, MYH11, MYLK, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2
Del Dup
NGS
Neurofibromatosis and related disorders NGS panel MLH1, MSH2, MSH6, NF1, NF2, SPRED1
Del Dup
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
Oligodontia - Selective tooth agenesis NGS panel AXIN2, EDA, LRP6, LTBP3, PAX9, PTH1R, WNT10A, WNT10B, MSX1
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel ACP5, B3GALT6, B3GAT3, BGN, CHST3, DDR2, GPX4, IHH, LONP1, NANS, PAM16, PAPSS2, PTH1R, 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, NKX3-2, PCYT1A, RMRP, RUNX2, SLC26A2, TRPV4, WISP3, XYLT1
NGS
Del Dup
Wolcott-Rallison syndrome EIF2AK3
Del Dup
NGS

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