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  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
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KBTBD13

Alias

HCG1645727; NEM6

Associated disorders

The KBTBD13 gene is associated with autosomal dominant nemaline myopathy 6 (NEM6) (MedGen UID: 373095).

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KBTBD13

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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.

Assay and technical information

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
KBTBD13 NM_001101362.2