September 20, 2016 - Connective Tissue Gene Tests (CTGT) is pleased to announce 12 New or updated NGS panels and tests.

New Tests
Cole-Carpenter syndrome NGS panel P4HB, SEC24D
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive ADAMTS2, CHST14, FKBP14, FLNA, ATP7A, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1, PLOD1, SLC39A13
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Recessive ADAMTS2, CHST14, FKBP14, ATP7A, PLOD1, SLC39A13
Del Dup
NGS
Ehlers-Danlos syndrome, type VI PLOD1
Del Dup
NGS
Joubert syndrome and related disorders NGS panel AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP104, CEP290, CEP41, CSPP1, INPP5E, KIAA0586, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, ZNF423, TTC21B
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
Meier-Gorlin syndrome NGS panel CDC45, GMNN, CDC6, CDT1, ORC1, ORC4, ORC6
Del Dup
NGS
Microcephalic primordial dwarfism NGS panel ATR, ATRIP, CDC45, CENPJ, CEP152, CEP63, DNA2, GMNN, NIN, PCNT, RBBP8, RNU4ATAC, TRAIP, CDC6, CDT1, ORC1, ORC4, ORC6
Del Dup
NGS
Multiple epiphyseal dysplasia (MED) NGS panel COL9A1, COL9A2, COMP, COL9A3, COL2A1, MATN3, SLC26A2
Del Dup
NGS
Oligodontia - Selective tooth agenesis NGS panel AXIN2, EDA, LRP6, LTBP3, PAX9, PTH1R, WNT10A, WNT10B, MSX1
Del Dup
NGS
Robinow syndrome NGS panel DVL1, DVL3, ROR2, WNT5A
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
Del Dup
NGS

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