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Charcot-Marie-Tooth disease, basic panel (52-gene panel, NGS)

Code: 10485

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(52 genes)

  • AARS
  • AIFM1
  • ATP1A1
  • COX6A1
  • DHTKD1
  • DNM2
  • DYNC1H1
  • EGR2
  • FGD4
  • FIG4
  • GARS
  • GDAP1
  • GJB1
  • GNB4
  • HARS
  • HK1
  • HSPB1
  • HSPB8
  • IGHMBP2
  • INF2
  • JPH1
  • KARS
  • KIF1B
  • LITAF
  • LMNA
  • LRSAM1
  • MARS
  • MED25
  • MFN2
  • MME
  • MORC2
  • MPZ
  • MTMR2
  • NAGLU
  • NDRG1
  • NEFH
  • NEFL
  • PDK3
  • PLEKHG5
  • PMP22
  • PRPS1
  • PRX
  • RAB7
  • SBF1
  • SBF2
  • SH3TC2
  • SPG11
  • SURF1
  • TRIM2
  • TRPV4
  • VCP
  • YARS

Specialties

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