Test catalog
NeoGenoma Plus
Whole genome (WGS) that combines, in a single report, the investigation of monogenic variants related to the clinical picture and preventive health findings.
- 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 NeoGenoma Plus
Method, scope, requirements and limitations
Whole genome (WGS) that combines, in a single report, the investigation of monogenic variants related to the clinical picture and preventive health findings.
- Applications
- Rare and hereditary diseases, Genome-wide investigation, Personalized prevention
- Accepted samples
- Peripheral blood (preferred), Buccal swab, Extracted DNA
- Estimated turnaround time
- 20 calendar days, after order confirmation
- Methodology
- Whole genome sequencing (WGS) with short reads, with monogenic evaluation of a comprehensive gene panel and calculation of the PRS 313 polygenic risk score for breast cancer.
- Analytical scope
- Monogenic variants related to the clinical picture and a preventive module that reports only high-penetrance (likely) pathogenic variants whose zygosity is compatible with the inheritance pattern of the disease, plus the PRS 313 for breast cancer.
- 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. Predisposition does not equate to diagnosis, and polygenic scores must be interpreted within the limits of the reference population.
Additional information
The report reflects the current state of scientific knowledge, and variant interpretation may change as new data become available. Findings should be considered together with clinical information and, when indicated, genetic counseling.
