Yes, Invitae’s panel tests detect deletion/duplication events encompassing a single exon or more. In some cases, specific genes and exons are excluded from analysis. Please consult our Test Catalog for details.
Our copy number detection algorithm can also identify large deletion/duplication events that include and extend beyond a targeted gene, although the boundaries of those events cannot be determined beyond the gene itself. In that respect, Invitae's testing does not provide cytogenetic analysis for large chromosomal anomalies or copy-neutral changes, such as reciprocal translocations, uniparental disomies, or inversions (one exception: we offer the MSH2 exon 1-7 inversion).
Note: In August 2015 we started offering del/dup analysis for full PMS. For more information about our methods, please visit our Validation studies page. (Deletion/duplication analysis is not guaranteed for gDNA samples.)
In contrast to Invitae's gene panel sequencing, where single-exon del/dups are detected, the greater variability in depth of coverage across an exome permits reliable detection of del/dups spanning 4 exons or more with high confidence; smaller events may be detected and will be reported when sufficient resolution exists.