Test catalog
NeoGenoma Portador
Whole genome (WGS) that combines clinical investigation, when applicable, with carrier screening for hereditary genetic conditions, including FMR1 and SMN1 analyses.
- 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 Portador
Method, scope, requirements and limitations
Whole genome (WGS) that combines clinical investigation, when applicable, with carrier screening for hereditary genetic conditions, including FMR1 and SMN1 analyses.
- Applications
- Reproductive planning
- 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 dedicated analyses of FMR1 gene expansion and SMN1 gene copy number.
- Analytical scope
- Variants related to the clinical picture, when applicable, carrier screening for hereditary genetic conditions, FMR1 gene expansion and SMN1 copy number.
- Medical order
- Required
Requirements
Medical request, diagnostic hypothesis, phenotypic data, family history, accepted sample and necessary clinical information.
Limitations
Being a carrier generally does not mean having the condition. The report presents the genes actually evaluated and the result does not eliminate the residual risk. Repetitive regions, regions of high homology, or regions with insufficient coverage or quality may not be adequately sequenced or analyzed.
Additional information
Informative content; does not replace medical evaluation or genetic counseling. Composition, technical limits and interpretation must be confirmed in the request and report.
