Periodic Paralysis Panel (seq & del/dup of 9 genes)
Use
This panel is designed for the molecular evaluation of individuals with clinical suspicion of periodic paralysis, enabling detection of sequence variants as well as deletions and duplications across nine genes implicated in hyperkalemic, hypokalemic, atypical periodic paralyses, and Andersen-Tawil syndrome. Genetic testing assists in confirming diagnoses, guiding management, and family testing planning.
Special Instructions
Requires genomic DNA from submitted specimen. Complete coding regions and splice-site junctions are enriched via GeneDx’s proprietary targeted capture system for NGS with CNV calling. Sequencing is performed on Illumina platforms; alternative methods (e.g., Sanger or other CNV detection) are used for regions with inadequate NGS resolution.
Limitations
Most deletions and duplications involving coding exons are detected, but technical limitations or sequence properties may reduce resolution for some genes; regions with inadequate sequencing or copy number data may require alternate methods. Reportable variants include pathogenic, likely pathogenic, and variants of uncertain significance; benign and likely benign variants are not routinely reported but are available on request.
Methodology
NGS
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Extracted DNA
Volume
Not provided
Minimum Volume
Not provided