CHETK; CHKL; CK; CKB; CKEKB; EK; EKB; MDCMC
The CHKB gene is associated with autosomal recessive congenital muscular dystrophy, megaconial type (MDCMC) (MedGen UID: 355943).
Order this gene as a single gene test.
Invitae tests that include this gene:
The percentage of clinical cases of congenital muscular dystrophy caused by pathogenic variants in the CHKB gene is unknown. However, 15 of 15 patients with congenital muscular dystrophy, mental retardation, and enlarged mitochondria were found to have pathogenic variants in the CHKB gene.
CHKB encodes choline kinase-beta, an enzyme that catalyzes the first step in the synthesis of phosphatidylcholine by adding a phophoryl group to choline. Absent choline kinase-beta activity in a spontaneous mouse mutant has been shown to cause a neonatal-onset muscular dystrophy with enlarged mitochondria, suggesting this enzyme is essential for normal muscle development and maintenance.
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|