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Spondylometaphyseal dysplasia (27-gene panel, NGS)

Code: 10689

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(27 genes)

  • ACAN
  • ACP5
  • B3GALT6
  • BGN
  • CANT1
  • CHST3
  • COL11A1
  • COL11A2
  • COL2A1
  • DDR2
  • DYM
  • EIF2AK3
  • HSPG2
  • INPPL1
  • KIF22
  • LONP1
  • MATN3
  • MMP13
  • NKX3-2
  • PAPSS2
  • PCYT1A
  • RAB33B
  • SLC39A13
  • SMARCAL1
  • TRAPPC2
  • TRPV4
  • WISP3

Specialties

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