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Skeletal dysplasia with abnormal mineralization (32-gene panel, NGS)

Code: 10690

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(32 genes)

  • ALPL
  • ANKH
  • B4GALT7
  • CASR
  • CLCN5
  • COL1A1
  • COL1A2
  • COL3A1
  • COL5A1
  • COL5A2
  • CRTAP
  • CYP27B1
  • FBN1
  • FGF23
  • FKBP10
  • GALNT3
  • MGP
  • P3H1
  • PHEX
  • PLOD2
  • PLS3
  • PPIB
  • PTDSS1
  • SERPINF1
  • SLC34A3
  • SLC39A13
  • SNX10
  • SOX9
  • TNFRSF11A
  • TNFRSF11B
  • VDR
  • WNT10A

Specialties

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