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This report does not include the Genome Sequencing test (to be purchased separately)

Report sobre la enfermedad de Wilson

Report sobre la enfermedad de Wilson

Precio habitual Dhs. 127.00 AED
Precio habitual Precio de oferta Dhs. 127.00 AED
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✔️ Add-on Report to your Genome Test

La enfermedad de Wilson es una alteración rara y congénita del metabolismo del cobre que se transmite de forma autosómica recesiva. Está causada por la acumulación patológica de cobre en algunos tejidos corporales, en particular los ojos, el hígado y el cerebro. La edad de aparición de esta afección es muy variable, puede presentarse entre los 6 y los 45 años, aunque es más frecuente que se manifieste en la adolescencia. Los síntomas que afectan al tejido cerebral se manifiestan con alteraciones del estado de ánimo, dificultades de movimiento, temblores, disartria y cambios en el tono muscular. En algunos casos, también pueden producirse manifestaciones psiquiátricas. Los síntomas hepáticos, que suelen ser los primeros signos de la enfermedad en niños y jóvenes, incluyen ictericia, fatiga e hinchazón abdominal. La afectación hepática muestra una variabilidad bastante amplia: algunos sujetos, de hecho, pueden no presentar trastornos que afecten a este órgano (sino sólo, posiblemente, alteraciones en las pruebas de función), mientras que otros pueden sufrir insuficiencia hepática.
Otras manifestaciones de la enfermedad de Wilson son la aparición de un anillo marrón alrededor del iris (debido a la acumulación de cobre), cambios en el equilibrio hormonal y osteoporosis.
Las mutaciones subyacentes a esta patología son portadoras de un único gen, el ATP7B, que codifica una proteína responsable de la eliminación del exceso de cobre a través de la bilis. Aunque este elemento es esencial para muchas funciones biológicas (es un importante cofactor enzimático), las cantidades excesivas son tóxicas y, por lo tanto, deben ser eliminadas.

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You receive your full whole genome data (FASTQ, BAM and VCF files), and AI reports. You can get additional reports anytime, without the need to re-send your sample.

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30X coverage is the gold standard in clinical grade whole genome sequencing, offering high-confidence variant calls and interpretation. A 30X whole genome is a superior test than a low pass genome or a microarray

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