Table 1.
Comparison of reportable variant types detected by different genetic testing assays
| Genetic test |
SNVs/Indels | CNVs | Mosaic variants |
Repeat expansions |
Balanced and complex SVs |
mtDNA | Genes tested |
VUS potentiala |
Costa |
|---|---|---|---|---|---|---|---|---|---|
| Sanger | Yes | No | Limited | No | No | If included | Single–few | + | $$ |
| CMA | No | Yes | Yes (CNV only) | No | No | No | Up to ~20,000 | ++ | $$ |
| NGS panel | Yes | Yes | Yes | No | No | If included | Few–hundreds | ++ | $ |
| WES | Yes | Limited | Limited (depends on coverage) | No | No | If included | ~20,000 (coding regions only) | +++ | $$$ |
| WGS | Yes | Yes | Limited (depends on coverage) | Yes | Yes | Yes | ~20,000 (coding and noncoding regions) | ++++ | $$$$ |
a
VUS potential and cost are compared on a scale from one symbol (lowest) to four (highest).
Abbreviations: CMA, chromosomal microarray; CNV, copy-number variation; Indel, small (<150 base pair) insertion/deletion; mtDNA, mitochondrial DNA; NGS, next-generation sequencing; SNV, single-nucleotide variant; SV, structural variant; VUS, variant of uncertain significance; WES, whole-exome sequencing; WGS, whole-genome sequencing.