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Congenital myasthenic syndrome (30-gene panel, NGS)

Code: 10018

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(30 genes)

  • AGRN
  • ALG14
  • ALG2
  • CHAT
  • CHRNA1
  • CHRNB1
  • CHRND
  • CHRNE
  • CHRNG
  • COL13A1
  • COLQ
  • DOK7
  • DPAGT1
  • FLAD1
  • GFPT1
  • LAMA5
  • LAMB2
  • LRP4
  • MUSK
  • MYO9A
  • PLEC
  • PREPL
  • RAPSN
  • SCN4A
  • SLC18A3
  • SLC25A1
  • SLC5A7
  • SNAP25
  • STIM1
  • SYT2

Specialties

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