The RPS26 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 412873).
The percentage of Diamond-Blackfan anemia attributed to pathogenic variants identified in RPS26 is roughly 3%.
The RPS26 gene encodes for the 40S ribosomal protein S26 which is located in the cytoplasm. As a ribosomal protein, RPS26 regulates ribosomal synthesis and specifically plays a role in erythropoietic differentiation and proliferation.
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|