This panel covers the coding regions of the listed nuclear genes and the flanking intronic sequences. Promoter, 3' untranslated sequences, and deep intronic sequences are also covered, but only known disease-causing variants in these regions will be reported. Targeted analysis is performed for specific variants in ten mitochondrial genes that have been associated with hearing loss; however, this does not constitute a full analysis of the mitochondrial genome (please contact the Molecular laboratory for more information).
Variants identified on the panel are confirmed with Sanger sequencing if they do not meet certain quality thresholds. Large deletions and duplications (CNVs) affecting the genes of the panel can be detected; however, due to defined settings in the analysis software, CNVs smaller than 2-kb may not be identified (for example, some small exonic level copy number changes may not be identified). Please note that certain types of genetic alterations including trinucleotide repeat expansions, methylation abnormalities, and balanced rearrangements (e.g., inversions, reciprocal translocations) may not be detected by the current analysis. Due to presence of a pseudogene, analysis of the STRC gene is limited to the detection of large deletions only. If there is a concern for a sequence variant in STRC, the Molecular Laboratory offers STRC gene-specific sequencing.