MENU
You have 0 genes in your order Proceed to order
Your cart is empty
Ordering
  • 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
  • Sample requirements
  • Request a sample kit
Billing
 
Print this page
  1. Test Catalog
  2. KBTBD13

KBTBD13

Alias

HCG1645727; NEM6

Associated disorders

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

Order single gene

KBTBD13

Order this gene as a single gene test.

Order a test

Invitae tests that include this gene:

Invitae Nemaline Myopathy Panel 11 genes

Invitae Cardiomyopathy and Skeletal Muscle Disease Panel 115 genes

Invitae Comprehensive Neuromuscular Disorders Panel 107 genes

Invitae Comprehensive Myopathy Panel 51 genes

Invitae Congenital Myopathy Panel 27 genes

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.

  1. North, KN, Ryan, MM. Nemaline Myopathy. 2002 Jun 19. In: Pagon, RA, et al, editors. GeneReviews(®) (Internet). University of Washington, Seattle. PMID: 20301465
  2. Sambuughin, N, et al. KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase. Biochem. Biophys. Res. Commun. 2012; 421(4):743-9. PMID: 22542517

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
Clinical resources
Neurology gene list Cardiology management guidelines Why is cardiology genetic testing important? Cardiology gene list Invitae brochure
Patient resources
Patient guide: Genetic testing simplified Patient guide: Hereditary heart conditions
Test information
Specimen requirements page Forms page

References

  1. North, KN, Ryan, MM. Nemaline Myopathy. 2002 Jun 19. In: Pagon, RA, et al, editors. GeneReviews(®) (Internet). University of Washington, Seattle. PMID: 20301465
  2. Sambuughin, N, et al. KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase. Biochem. Biophys. Res. Commun. 2012; 421(4):743-9. PMID: 22542517

Headquarters | 458 Brannan Street, San Francisco, CA 94107

Laboratory & Shipping | 475 Brannan Street, Suite 230, San Francisco, CA 94107 | www.invitae.com

In the US | clientservices@invitae.com | p: 800-436-3037 | f: 415-276-4164

Outside the US | globalsupport@invitae.com or visit www.invitae.com/contact

©2015 Invitae Corp. All rights reserved.