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Osteogenesis imperfecta (40-gene panel, NGS)

Code: 11217

The availability and turnaround time of this test should be confirmed with the unit before collection.

Method
Next-generation sequencing (NGS)
Collection requirements
EDTA: Blood (10 mL)
Sample stability
Refrigerated at 2-8 °C
Turnaround time
33 working days
Preparation and notes
IMPORTANT: Samples for this test should only be collected Monday to Thursday and never on the day before a public holiday. Clinical history and family history are mandatory.

Genes tested(40 genes)

  • AGPS
  • ALPL
  • ARSE
  • B3GAT3
  • B4GALT7
  • BMP1
  • CLCN5
  • COL1A1
  • COL1A2
  • COL2A1
  • CREB3L1
  • CRTAP
  • DLL3
  • DYNC2H1
  • EVC
  • EVC2
  • FGF23
  • FGFR2
  • FGFR3
  • FKBP10
  • FLNB
  • GNPAT
  • IFITM5
  • LRP5
  • NEK1
  • P3H1
  • PLOD2
  • PLS3
  • PPIB
  • SEC24D
  • SERPINF1
  • SERPINH1
  • SLC26A2
  • SLC34A3
  • SOX9
  • SP7
  • SPARC
  • TMEM38B
  • TRIP11
  • WNT1

Specialties

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