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Charcot-Marie-Tooth disease and related hereditary motor and sensory neuropathies (101-gene panel, NGS)

Code: 10020

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(101 genes)

  • AARS
  • AIFM1
  • AMACR
  • ARHGEF10
  • ATL1
  • ATL3
  • ATP7A
  • BAG3
  • BICD2
  • BSCL2
  • C12orf65
  • CCT5
  • COX10
  • COX6A1
  • CTDP1
  • DCAF8
  • DCTN1
  • DHTKD1
  • DNAJB2
  • DNM2
  • DNMT1
  • DRP2
  • DST
  • DYNC1H1
  • EGR2
  • FBLN5
  • FBXO38
  • FGD4
  • FIG4
  • FXN
  • GAN
  • GARS
  • GDAP1
  • GJB1
  • GJB3
  • GNB4
  • GNE
  • HADHB
  • HARS
  • HINT1
  • HK1
  • HOXD10
  • HSPB1
  • HSPB8
  • IGHMBP2
  • INF2
  • KARS
  • KIF1A
  • KIF1B
  • KIF5A
  • LDB3
  • LITAF
  • LMNA
  • LRSAM1
  • MARS
  • MCM3AP
  • MED25
  • MFN2
  • MME
  • MORC2
  • MPZ
  • MTMR2
  • MYOT
  • NAGLU
  • NDRG1
  • NEFH
  • NEFL
  • NGF
  • NTRK1
  • PDK3
  • PLEKHG5
  • PMP22
  • PNKP
  • POLG
  • PRPS1
  • PRX
  • RAB7A
  • REEP1
  • RETREG1
  • SACS
  • SBF1
  • SBF2
  • SCN9A
  • SETX
  • SH3TC2
  • SLC12A6
  • SLC25A46
  • SLC52A2
  • SLC52A3
  • SMAD3
  • SPG11
  • SPTLC1
  • SPTLC2
  • SURF1
  • TFG
  • TRIM2
  • TRPV4
  • TYMP
  • VCP
  • WNK1
  • YARS

Specialties

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