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