¿En qué consiste este estudio genético?
El estudio de portadores es un test genético exhaustivo en la evaluación de portadores, diseñado para parejas que desean tener un hijo sano, un embarazo seguro. En la actualidad analiza más de 300 enfermedades hereditarias entre las que se seleccionan aquellas con un gran impacto en la esperanza de vida o en su calidad.
Algunas de estas enfermedades son:
- Fibrosis quística
- Síndrome de X frágil
- Atrofia muscular espinal
- Anemia de células falciformes
- Alfa y beta talasemia
- Enfermedad de Tay-Sachs
Lista de enfermedades completa: carrier_screening_test-_disease_list_OMICAS
¿Por qué es importante determinar el riesgo de transmitir una enfermedad genética a su hijo?
Nuestros genes proporcionan instrucciones a nuestro cuerpo para crecer y funcionar. Todos tenemos dos copias de cada gen. Modificaciones en estos genes, llamadas mutaciones, pueden combinarse en nuestros hijos y causar enfermedades hereditarias que pueden perjudicar en su salud y bienestar.
Los portadores de una enfermedad genética tienen una copia de un gen que no funciona, pero normalmente no presentan problemas de salud y habitualmente carecen de un historial familiar de la enfermedad. Con tan solo una muestra de sangre o saliva, este estudio es capaz de determinar si es usted portador de más de 300 enfermedades genéticas y si corre el riesgo de transmitir alguna enfermedad genética a su hijo. Con esta información usted puede planear una familia saludable.
¿Por qué debería realizarme este análisis genético?
Es el único panel que tiene en cuenta las diferencias multiétnicas por lo que puede ser utilizado por todo el mundo independientemente de su procedencia.
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Personalización de pruebas para integrarse perfectamente con su clínica.
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Capacidad para agregar nuevas enfermedades y mutaciones con evidencia científica.
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Examina enfermedades autosómicas recesivas y herencia recesiva ligada al cromosoma X.
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300 enfermedades y más de 2.000 mutaciones. Detector de portadores más relevante del mundo
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Tecnología genotipificación/secuenciación de illumina, incluyendo mutaciones intrónicas, exónicas y del promotor
Le ayudamos a entender sus resultados
Asesoramiento genético exhaustivo pre y pos-test por técnicos con formación avanzada específica facilitando la toma de decisión tras el resultado, comprometiéndonos así a ofrecerle información, orientación, y apoyo durante todo el proceso. Nuestros asesores de genética le ayudarán a interpretar los resultados del estudio dentro del marco de su historial médico, ayudándole a tomar decisiones médicas y reproductivas basadas en sus resultados.
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