Associated disorders

The KCNH2 gene is associated with autosomal dominant long QT syndrome (LQTS) type 2 (MedGen UID: 462293), short QT syndrome (SQTS) (MedGen UID: 355891), and Brugada syndrome (BrS) (MedGen UID: 222975).

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Pathogenic KCNH2 variants and are associated with ~35% of clinical cases of LQTS. They are also a rare cause of SQTS and are associated with an unknown percentage of clinical cases of BrS.

The KCNH2 gene encodes the potassium voltage-gated channel subfamily H (eag-related) member 2. 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 encode potassium channels are a common cause of inherited cardiac arrhythmias.

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, 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
KCNH2 NM_000238.3, NM_172057.2