September 27, 2018- Connective Tissue Gene Tests (CTGT) is pleased to announce 6 New or updated NGS panels.

Connective tissue disorder NGS panel ACTA2, ADAMTS2, AEBP1, B3GALT6, B3GALT7, BGN, C1R, C1S, CHST14, COL12A1, DCHS1, DSE, FKBP14, FLCN, FOXE3, LOX, LTBP3, MAT2A, MED12, MFAP5, NOTCH1, SMAD2, TGFB3, FBN1, FBN2, FLNA, ATP7A, CBS, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1, MYH11, MYLK, PLOD1, PRDM5, PRKG1, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2, ZNF469
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
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel ACTA2, BGN, FOXE3, LOX, LTBP3, MAT2A, MED12, MFAP5, NOTCH1, SMAD2, TGFB3, FBN1, FBN2, FLNA, CBS, COL5A2, COL5A1, COL3A1, MYH11, MYLK, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2
Del Dup
NGS
Pulmonary hypertension NGS panel ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, FOXF1, KCNA5, KCNK3, SMAD9, ENG, GDF2, SMAD4
Del Dup
NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel ARSE, C21orf2, C2CD3, CEP120, DDR2, DYNC2LI1, EBP, ICK, IFT140, IFT172, IFT52, IFT81, KIAA0586, KIAA0753, LBR, NSDHL, PEX7, PTH1R, SBDS, SLC35D1, TCTEX1D2, WDR34, EVC2, FGFR3, EVC, DYNC2H1, INPPL1, IFT80, IFT43, IFT122, FLNB, HSPG2, ALPL, COL10A1, COL11A1, COL11A2, COL2A1, COL1A2, COL1A1, LIFR, MMP13, MMP9, NEK1, NKX3-2, RMRP, SLC26A2, SOX9, TRIP11, TRPV4, TTC21B, WDR19, WDR35, WDR60
Del Dup
NGS

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