Descripción
Genetic carrier screening for recessive diseases, especially indicated for couples planning a pregnancy.
Includes:
- Sample collection kit (shipping included)
- Analysis of 115 recessive and X-linked genes (ACMG Tier 3 panel)
- Clinical report with carrier status
- Genetic counselling by email
Turnaround:
30 calendar days from sample receipt.
Limitations:
This is a screening test, not a clinical diagnosis. A negative result reduces but does not eliminate risk (genes not included, variants not covered, VUS and de novo variants). VUS are not reported as carrier status. Detection is not 100% in complex regions (SMN1/SMN2, HBA1/HBA2, GBA1/GBAP1, CYP21A2 and the FMR1 CGG expansion). Laboratory certified ISO 9001:2015; not ISO 15189 accredited. Genetic counselling by email included.
Price per person. Couples discount: 350 EUR for both tests.
Other modalities
Extended (465 €/person, available in the shop), Whole exome (735 €/person) and Whole genome (935 €/person). Request them by writing to genetica@omicalabs.es.




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