The KBTBD13 gene is associated with autosomal dominant nemaline myopathy 6 (NEM6) (MedGen UID: 373095).
Order this gene as a single gene test.
Invitae tests that include this gene:
The percentage of clinical cases of nemaline myopathy caused by pathogenic variants in the KBTBD13 gene is unknown, however, KBTBD13 probably accounts for <1% of nemaline myopathy.
KBTBD13 encodes a member of the BTB domain-containing Kelch family of proteins. KBTBD13 is expressed in skeletal and cardiac muscle and co-localizes with ubiquitin. Its function is unknown, however, it may be involved in the ubiquitin proteasome pathway.
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|