Spinocerebellar Ataxia NGS panel

Genes
(full
coding region):		 ABCB7, ABHD12, ACO2, AFG3L2, ANO10, APTX, ATCAY, ATG5, ATM, ATP8A2, ATP2B3, CACNA1A, CACNA1G, CASK, CCDC88C, CEP290, CLCN2, CLN5, COQ8A, CWF19L1, CYP27A1, DARS2, FXN, GOSR2, GRID2, GRM1, GSS, DNMT1, EEF2, ELOVL4, ELOVL5, FAT2, FGF14, FLVCR1, ITPR1, KCNC3, KCND3, KCNJ10, LAMA1, MAN2B1, MECR, MME, NOP56, NPC1, NPC2, OFD1, OPHN1, PAX6, PDYN, PEX7, PHYH, PNKP, PNPLA6, POLG, PRKCG, RUBCN, PLD3, PTF1A, PUM1, RNF216, SACS, SCYL1, SERAC1, SETX, SIL1, SLC2A1, SLC52A2, SLC9A1, SLC9A6, SNX14, SPTBN2, STUB1, SYNE1, SYT14, TRPC3, TTBK2, TDP1, TGM6, TMEM231, TMEM240, TPP1, TTC19, TTPA, TUBB4A, TWNK, UBA5, VPS13D, VWA3B, WFS1, WWOX, XRCC1, ZNF592

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

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

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Risk assessment of at-risk relatives
3. Differential diagnosis between different forms of spinocerebellar ataxia
4. Prenatal diagnosis for known familial mutation
5. Genetic counseling

Spinocerebellar ataxia (SCA) is a progressive, degenerative disease with multiple types. It is characterized by problems with coordination of hands, speech, and eye movements. SCA frequently results in atrophy of the cerebellum, the part of the brain that controls coordination of movements. The onset of symptoms usually occurs after the age of 18.

The ataxia can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.

References:

Smith CO’S et al. Spinocerebellar Ataxia: Making an Informed Choice About Genetic Testing. http://depts.washington.edu/neurogen November 1999 (Updated November 2004)
Subramony SH and Ashizawa T. Spinocerebellar Ataxia Type 1. GeneReviews® 1998 October 1 (Updated 2014 July 3).