Spinocerebellar Ataxia NGS panel

Genes: ABCB7, ABHD12, ACO2, ADCK3, AFG3L2, ANO10, APTX, ATCAY, ATM, ATP8A2, CASK, CCDC88C, CLCN2, CLN5, C10orf2, CWF19L1, CYP27A1, DARS2, FXN, GOSR2, GRM1, DNMT1, EEF2, ELOVL4, ELOVL5, FGF14, FLVCR1, ITPR1, KCNC3, KCND3, KCNJ10, LAMA1, NOP56, OPHN1, PDYN, PHYH, PNKP, PNPLA6, POLG, PRKCG, RUBCN (KIAA0226), PTF1A, RNF216, SACS, SETX, SIL1, SLC9A1, SLC9A6, SLC52A2, SNX14, SPTBN2, STUB1, SYNE1, SYT14, TTBK2, TDP1, TGM6, TMEM240, TPP1, TTPA, TUBB4A, WFS1, WWOX, ZNF592

The test is less informative for disease types (SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA12, SCA18) caused by triplet repeat expansion.


Lab method: Next generation sequencing

Price / TAT: 1577 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