ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS
The CHRNB1 gene is associated with autosomal recessive and dominant forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 833647, 833664, 373251).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic variants in CHRNB1 are estimated to cause less than 1% of clinical cases of congenital myasthenic syndrome.
CHRNB1 encodes the beta subunit of the muscle acetylcholine receptor. The acetylcholine receptor in postnatal muscle is composed of five subunits (2 alpha, 1 beta, 1 epsilon, and 1 delta) whereas in prenatal muscle the epsilon subunit is replaced by a gamma subunit. The acetylcholine receptor is located at the neuromuscular junction where it binds acetylcholine released by the terminal nerve cell.
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|