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Myopathies with contractures (11-gene panel, NGS)

Code: 10763

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(11 genes)

  • COL12A1
  • COL6A1
  • COL6A2
  • COL6A3
  • EMD
  • FHL1
  • LMNA
  • SYNE1
  • SYNE2
  • TMEM43
  • TTN

Specialties

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