Descripción
Extended carrier screening: complete sequencing of more than 360 genes combined with complementary techniques for the technically difficult loci. Meets the Spanish preconception screening consensus.
Includes:
- Sample collection kit (shipping included)
- Sequencing of more than 360 recessive and X-linked genes
- Complementary tests: SMA (including silent carriers), fragile X (with AGG interruptions), thalassaemias and haemoglobinopathies, Duchenne muscular dystrophy and adrenal hyperplasia (CYP21A2)
- Clinical report with carrier status
- Genetic counselling by email
Indications:
Couples planning a pregnancy and gamete donors. For consanguineous couples we recommend the whole-exome level.
Sample:
Blood (5 mL, EDTA tube).
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. It is a fixed panel: it does not analyse the rest of the exome and does not measure autozygosity. Laboratory certified ISO 9001:2015; not ISO 15189 accredited.
Price per person: 465 EUR (no couple discount).
Other modalities
Whole exome (735 EUR/person) and whole genome (935 EUR/person), with joint couple analysis and autozygosity. Request them by writing to genetica@omicalabs.es.




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