CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD
The CSTB gene is associated with autosomal recessive Unverricht-Lundborg syndrome (MedGen UID: 155923), a subtype of progressive myoclonic epilepsy.
Order this gene as a single gene test.
CSTB: Dodecamer repeat numbers in the 5' UTR are not determined.
Invitae tests that include this gene:
Pathogenic variants in the CSTB gene are associated with ~90% of clinical cases of Unverricht-Lundborg syndrome.
The cell is continually producing essential building blocks for life, such as proteins, metabolites, sugars, and lipids. These components are also continually degraded as they become damaged, overabundant, or unnecessary. This degradation is often carried out in lysosomes, acidic cellular organelles, by lysosomal proteases that are restrained both spatially and chemically to control their activity. The CSTB gene encodes a protease inhibitor which associates with lysosomes and is hypothesized to prevent improper lysosomal protease activity (PMID: 15483648).
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, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.
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|
*CSTB: Dodecamer repeat numbers in the 5' UTR are not determined.