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