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Osteopetrosis and high bone density disorders (29-gene panel, NGS)

Code: 11232

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(29 genes)

  • AMER1
  • ANKH
  • CA2
  • CLCN7
  • COL1A1
  • CTSK
  • DLX3
  • FAM20C
  • GJA1
  • HPGD
  • LEMD3
  • LRP4
  • LRP5
  • MTAP
  • OSTM1
  • PLEKHM1
  • PTDSS1
  • PTH1R
  • SLC29A3
  • SLCO2A1
  • SNX10
  • SOST
  • TBXAS1
  • TCIRG1
  • TGFB1
  • TNFRSF11A
  • TNFRSF11B
  • TNFSF11
  • TYROBP

Specialties

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