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Congenital myopathies (26-gene panel, NGS)

Code: 10034

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)

  • ACTA1
  • BIN1
  • CCDC78
  • CFL2
  • DNM2
  • GLDN
  • HACD1
  • KBTBD13
  • KLHL40
  • KLHL41
  • LMOD3
  • MAP3K20
  • MTM1
  • MYF6
  • MYH7
  • MYL2
  • MYPN
  • NEB
  • RYR1
  • SELENON
  • SPEG
  • TNNT1
  • TPM2
  • TPM3
  • TRIM32
  • TTN

Specialties

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