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Congenital central core myopathy (26-gene panel, NGS)

Code: 10012

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(26 genes)

  • B3GALNT2
  • B4GAT1
  • CHKB
  • COL12A1
  • COL6A1
  • COL6A2
  • COL6A3
  • DAG1
  • DMD
  • DPM1
  • DPM2
  • DPM3
  • FKRP
  • FKTN
  • GMPPB
  • INPP5K
  • ISPD
  • ITGA7
  • LAMA2
  • LMNA
  • POMGNT1
  • POMGNT2
  • POMK
  • POMT1
  • POMT2
  • RXYLT1

Specialties

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