Test catalog
Single-gene sequencing by WGS
Whole genome sequencing (WGS) with analysis targeted to one gene associated with the clinical condition or family history.
- 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 Single-gene sequencing by WGS
Method, scope, requirements and limitations
Whole genome sequencing (WGS) with analysis targeted to one gene associated with the clinical condition or family history.
- Applications
- Rare and hereditary diseases
- 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 a specific gene.
- Analytical scope
- Analysis of one gene associated with the clinical condition or family history, 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.
