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Neuromuscular channelopathies (26-gene panel, NGS)

Code: 10017

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)

  • AGRN
  • ATP2A1
  • CACNA1A
  • CACNA1S
  • CHRNA1
  • CHRNA2
  • CHRNA4
  • CHRNB1
  • CHRNB2
  • CHRND
  • CHRNE
  • CLCN1
  • COL6A3
  • DMPK
  • GAA
  • GBE1
  • KCNJ18
  • KCNJ2
  • KCNT1
  • PNKP
  • RYR1
  • SCN1A
  • SCN4A
  • SCN8A
  • SLC25A22
  • SPTAN1

Specialties

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