“This new service offers three levels of analysis tailored to the specific needs of each patient”
TECNALIA has developed a new adapted genetic carrier screening analysis service.
TECNALIA’s genetics laboratory has presented an innovative carrier screening test service. This service is designed to identify the risk of having a baby with a genetic disease, and to provide key information for family planning and reproductive medicine.
Tailored analysis service
The service offers three analysis levels tailored to the specific needs of each patient.
- The core panel includes seven genes linked to common diseases, such as CFTR, linked to cystic fibrosis; GJB2, nonsyndromic hearing loss; HBA1 and HBA2, alpha thalassaemia; HBB, beta thalassaemia; and SMN1, spinal muscular atrophy.
- The expanded panel includes 327 genes linked to common and severe diseases, both autosomal recessive and X-linked.
- TECNALIA offers a comprehensive exome analysis, covering around 6,000 genes linked to human pathologies. With this holistic approach, specialists analyse specific gene clusters according to the needs of each patient.
Exome analysis not only ensures a full match with carrier tests offered by other laboratories, but also provides greater versatility to integrate and exploit existing and future genetic information.
Advantages of the TECNALIA Carrier Test
- Preventive and personalised approach: tailored to the individual needs of each patient.
- Future clinical information: access to updatable genetic data, useful for innovative treatments or future reproductive decisions.
- Broad compatibility: results compatible with tests from other laboratories and gamete banks.
For more information or to book a consultation, please contact our genetics laboratory.
