Por que realizar este exame?

It is estimated that approximately 1 in 100 newborns has a monogenic disease. These types of hereditary diseases are caused by the presence of variants in single gene and affect millions of people although they are considered individually infrequent. When both parents have variants for the same genetic disease, there is a 25% risk of transmission to offspring.

O que é o exame?

PreconGEN is a genetic screening test that allows us to know if the parents are carriers of monogenic recessive diseases that can be transmitted to their descendants. It examines more than 170 relevant monogenic diseases that follow an autosomal recessive or X chromosome-linked inheritance pattern, informing pathogenic and probably pathogenic variants, classified according to the recommendations of the international reference guides. There is three exam options:
• Gamete Donors,
• Individuals/Recipients,
• Couples.

Para quem é indicado?

• Couples who are thinking about starting a family or expanding it and want to know if they are carriers of recessive diseases
• Couples who require donation of gametes, to select the most appropriate donor
• Gametes banks or reproduction clinics, to analyse all ova or sperm donors
• People belonging to some ethnic group with a higher risk of having hereditary recessive diseases
• Anyone who wants to know if they are carriers of the diseases included in this panel

Tecnologia

Next Generation Sequencing (NGS)

Vantagens

SYNLAB GROUP:
• Guaranteed from the experience of the Synlab group, the absolute European leader in laboratory diagnosis. COMPLETE:
• Diseases selected by severity, prevalence and therapeutic possibilities.
COMPREHENSIVE:
• Detection rate greater than 99% for most diseases.
• Analysis and constant updating of the variants databases in real-time by the team of genetic specialists from SYNLAB.
GENETIC COUNSELLING:
• Genetic counseling available at no additional cost according to the needs of each client.
EXPERTISE:
• Trust and experience: more than 700,000 samples analysed with more than 340,000 published cases.

Informações Extras

DOCUMENTATION – Available on Extranet for clients:
• Informed Consent
• Clinical Questionnaire
PREPARATION:
• Fasting is not required for the test.


Tempo de Entrega
15 working days
Tipo de Amostra
Whole blood (request the specific kit from us)

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