AGDx NGS – Craniosynostosis panel v1

Test code: V00289
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Genes

ABCC9, ACTB, ACTG1, ADAMTSL4, AKT1, ALPL, ALX3, ALX4, BUB1, C5orf42, CCBE1, CDC45, CDKN1C, CEP57, CHST3, CLCN7, COLEC11, CTSK, CYP26B1, EFNA4, EFNB1, EIF4A3, ERF, ESCO2, FAM111A, FAM58A, FBN1, FGFR1, FGFR2, FGFR3, FLNA, FLNB, FREM1, GLI3, GNPTAB, GPC3, GPC4, GUSB, HRAS, IFT122, IFT43, IHH, IL11, IL11RA, IMPAD1, IRX5, JAG1, KCNJ8, KDM6A, KMT2D, KPTN, KRAS, LRP5, MACROD2, MASP1, MCPH1, MEGF8, MSX2, NFIX, NOTCH2, NSD1, OSTM1, P4HB, PHF21A, PIGT, POLR1A, POLR1C, POLR1D, POR, PTCH1, PTEN, PTH1R, RAB23, RAI1, RECQL4, SALL1, SCARF2, SEC23A, SEC24D, SH3BP2, SH3PXD2B, SKI, SLC35C1, SOX6, SOX9, TCF12, TCIRG1, TCOF1, TGFBR1, TGFBR2, TLK2, TMEM216, TNR, TWIST1, USB1, WDR19, WDR35, ZIC1, ZIC3, ZSWIM6

Lab method

NGS Sequencing

Turnaround time

3 months

Price  1.115,00

Disorders:

  • Apert syndrome (OMIM: 101200)
  • Crouzon syndrome (OMIM: 123500)
  • Pfeiffer syndrome (OMIM: 101600)
  • Saethre-Chotzen syndrome - SCS (OMIM: 101400)
  • Apert syndrome (OMIM: 101200)
  • Craniosynostosis 4 (OMIM: 600775)
  • Crouzon syndrome (OMIM: 123500)
  • Pfeiffer syndrome (OMIM: 101600)
  • Saethre-Chotzen syndrome - SCS (OMIM: 101400)