Charcot-Marie-Tooth Disease NGS panel

Genes: AARS, AIFM1, ARHGEF10, BSCL2, C12orf65, COX6A1, DCTN1, DHTKD1, DNAJB2, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HK1, HSPB1, HSPB8, IGHMBP2, INF2, KARS, KIF5A, KIF1B, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MORC2, MPZ, MTMR2, NAGLU, NDRG1, PDK3, PLEKHG5, PMP22, POLG, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SETX, SH3TC2, SURF1, TRIM2, TRPV4, VCP, YARS

Lab method: Next generation sequencing

Price / TAT: 1314 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA
Send blood samples at room temperature. Blood samples can be preserved at 2-8°C before shipping. Blood samples are recommended not to freeze and not to store longer than one week.

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
Send DNA samples at room temperature or frozen. To avoid sample loss and contamination, please use 0,5-2,0 ml screw cap tubes, tubes with safe lock lid or wrap the caps of each microtube with parafilm. The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form
Enclose the filled form in the package
Send samples to the following address:

Asper Biotech
Vaksali 17a
Tartu 50410
Estonia