Hereditary Ataxia NGS panel

Genes
(full
coding region):
ABCB7, ABHD12, ACO2, AFG3L2, AHI1, ANO10, APTX, ATCAY, ATG5, ATM, ATP1A2, ATP1A3, ATP8A2, ATP2B3, CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CAPN1, CASK, CC2D2A, CCDC88C, CEP290, CHP1, CHRNA4, CLCN2, CLN5, COA7, COQ2, COQ4, COQ6, COQ7, COQ9, COQ8A, C9orf72, CPLANE1, CWF19L1, CYP27A1, DARS2, DEPDC5, DNMT1, EEF2, ELOVL4, ELOVL5, FAT2, FGF14, FLVCR1, FXN, GDAP2, GOSR2, GRID2, GRM1, GSS, GSX2, IFRD1, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KCNMA1, KCNQ2, KIF1C, LAMA1, MAN2B1, MARS2, MECR, MME, MTCL1, MTPAP, NKX6-2, NOP56, NPC1, NPC2, OFD1, OPHN1, PAX6, PCDH12, PDSS1, PDSS2, PDYN, PEX7, PHYH, PNKD, PNKP, PNPLA6, POLG, PRKCG, RUBCN, PIK3R5, PLD3, PMPCA, POLR3A, POLR3B, PRRT2, PTF1A, PUM1, RNF216, SACS, SAMD9L, SCN1A, SCN2A, SCN8A, SCYL1, SERAC1, SETX, SIL1, SLC1A3, SLC16A2, SLC2A1, SLC25A46, SLC52A2, SLC9A1, SLC9A6, SNX14, SPG7, SPTBN2, SQSTM1, STUB1, SYNE1, SYT14, TDP2, TRPC3, TSFM, TTBK2, TDP1, TGM6, THG1L, TMEM231, TMEM240, TPP1, TTC19, TTPA, TUBB4A, TWNK, TXN2, UBA5, UBR4, VAMP1, VLDLR, VPS13D, VWA3B, WDR73, WDR81, WFS1, WWOX, XRCC1

List of diseases covered by the panel

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


Non-coding variants: List of non-coding variants covered by the panel

Lab method: NGS panel NGS panel with CNV

TAT: 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
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

Repeat Expansion Analysis Panel

Genes: ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN10, ATN1, BEAN1, CACNA1A, FXN, NOP56, PPP2R2B, TBP

Lab method: Repeat expansion analysis

TAT: 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
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

Mitochondrial genome sequencing

Lab method: Next generation sequencing
Heteroplasmy less than 20% is not detectable by sequencing.

TAT: 2-4 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
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

Deletion/duplication analysis of selected regions

Lab method: Chromosomal Microarray Analysis

TAT: 2-4 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
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

Repeat Expansion Analysis

Genes: FMR1

Lab method: Repeat expansion analysis

TAT: 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
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