Why it is performed
- Investigate a suspected inherited disorder based on symptoms or history.
- Assess hereditary-cancer predisposition when personal or family history meets criteria.
- Offer cascade testing to relatives when a pathogenic family variant is known.
- Guide prevention, surveillance or reproductive decisions with appropriate counselling.
How it is performed
After reviewing the indication and pedigree, Askabide collects and identifies the sample and sends it with consent to the partner laboratory. The genetic report must be interpreted with clinical history and, where appropriate, by clinical genetics.
Preparation
- Bring reports from the affected relative and any known family genetic result; testing an affected person first is often more informative.
- Prepare a pedigree with disease or cancer types and approximate ages at diagnosis.
- Consider implications for insurance, relatives, secondary findings and the right not to know before consent.
How Askabide processes it
Partner laboratory
Sequencing and/or analysis of deletions, duplications or other variants according to the panel. Technique and genes are defined before referral; results are professionally classified and may be re-evaluated over time.
Askabide manages information, specimen and traceability; the specialist technique is performed externally.
Results and indicative intervals
Intervals vary by method, analyser, reagent, units, age, sex, pregnancy, menstrual-cycle phase and reference population. The valid interval is the one printed on the laboratory report.
| Parameter or result | Indicative reference | How it is interpreted |
|---|---|---|
| Pathogenic/likely pathogenic variant | Hallazgo clínicamente relevante | May confirm predisposition or diagnosis in context; it does not by itself predict when disease will occur. |
| Variant of uncertain significance | No debe guiar decisiones irreversibles | It is not automatically considered causal and may be reclassified as evidence evolves. |
| Negative/uninformative | Dentro del alcance del panel | No relevant variant is found, but a genetic cause outside the test scope or not yet known is not excluded. |
| Carrier | Según herencia | May have reproductive or family implications even if the person is unaffected. |
Important limitations
- A negative result does not remove all hereditary risk.
- A VUS must not be treated as a pathogenic mutation.
- Broad panels increase uncertain or secondary findings.
- Results may affect biological relatives, making confidentiality and counselling essential.