Long QT Syndrome Gene Panel, Varies

Clinical Use

Use

This test utilizes next‑generation sequencing to detect single nucleotide and copy number variants in 10 genes associated with long QT syndrome (CACNA1C, CALM1, CALM2, CALM3, KCNE1, KCNH2, KCNJ2, KCNQ1, SCN5A, and TRDN). Identification of a disease‑causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for LQTS.

Special Instructions

Not provided.

Limitations

There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis due to technical limitations, including regions of homology, high GC content, and repetitive sequences. Specific gene regions not routinely covered will be noted in the report. For saliva or blood‑spot specimens, DNA quantity/quality may be inadequate in some regions and additional specimen may be required. DNA extracted from inadequate quality may result in failed testing and report of failed result.

Test Details

New York Approved