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Osteogenesis imperfecta (13-gene panel, NGS)

Code: 11220

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(13 genes)

  • COL1A1
  • COL1A2
  • CRTAP
  • LEPRE1
  • SERPINF1
  • IFITM5
  • FKBP10
  • PPIB
  • SP7
  • BMP1
  • SERPINH1
  • TMEM38B
  • WNT1

Specialties

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