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