ATFB17; LQT10; Navbeta4
The SCN4B gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant long QT syndrome (LQTS), type 10 (MedGen UID: 394836) and atrial fibrillation (MedGen UID: 334469).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic SCN4B variants are associated with an unknown percentage of clinical cases of LQTS.
The SCN4B gene encodes the beta unit of the sodium channel, voltage-gated, type IV. Sodium channels control the flow of sodium ions in cardiac muscle cells. The electrical activity of cardiac muscle is controlled by the movement of potassium, sodium, and calcium ions across cardiac muscle cell membranes. Pathogenic variants in genes that disrupt the function of a sodium channel are a common cause of inherited cardiac arrhythmias.
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|