ARSACS; DNAJC29; PPP1R138; SPAX6
The SACS gene is associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (MedGen UID: 338620).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic variants in SACS are a rare form of hereditary spastic paraplegia but account for an estimated 13% of the complex HSP syndrome spastic ataxia of Charlevoix-Saguenay (ARSACS).
The SACS gene encodes the sacsin protein, which is expressed in neurons and may play a role in the degradation of misfolded or aggregated proteins by regulating the Hsp70 chaperone machinery.
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.
Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|