Test catalog
Custom gene panel by WGS
Whole genome sequencing (WGS) with analysis targeted to a set of genes selected according to the clinical indication.
- Accepted samples
- Peripheral blood (preferred), Buccal swab, Extracted DNA
- Turnaround time and when it starts
- 20 calendar days, after order confirmation
- Medical order
- Required. View requirements and limitations.
Test information
Technical details for Custom gene panel by WGS
Method, scope, requirements and limitations
Whole genome sequencing (WGS) with analysis targeted to a set of genes selected according to the clinical indication.
- Applications
- Rare and hereditary diseases, Genome-wide investigation
- Accepted samples
- Peripheral blood (preferred), Buccal swab, Extracted DNA
- Estimated turnaround time
- 20 calendar days, after order confirmation
- Methodology
- Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.
- Analytical scope
- Analysis of the genes selected according to the clinical indication, using genome data and the laboratory’s validated technical criteria.
- Medical order
- Required
Requirements
Medical request, diagnostic hypothesis, phenotypic data, family history, accepted sample and necessary clinical information.
Limitations
Repetitive regions, regions of high homology, or regions with insufficient coverage or quality may not be adequately sequenced or analyzed.
Additional information
A negative result does not exclude a genetic condition. Interpretation should take clinical information and, when indicated, genetic counseling into account.
