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Whole exon gene test


Whole exon gene test

Whole exome sequencing is a new method for genomic analysis. The vast majority of variations in the level of DNA sequences known to be associated with disease occur in the exon region. Capture the DNA sequence of the exon region in the genome and perform centralized sequencing analysis to find disease-causing mutations or new genes related to the disease, which can be used for various genetic diseases, especially incurable diseases or heterogeneity. Strong genetic diseases provide direct evidence of diagnosis at the DNA level.

The company uses The SureSelect Human All Exon V6 with high specificity and high coverage for exon capture. DNA sequence probes cover exon regions and adjacent intron sequences of more than 20,000 human genes for biological Information analysis to obtain mutation information of disease-related genes, find suspicious pathogenic mutations, and provide reference for clinical diagnosis and mutation screening.


Technical advantages:

Screen 20,000 genetic disease-related pathogenic genes at one time;

Discover common and rare mutations, and discover new mutation sites;


Application areas:

Undiagnosed incurable diseases;

Screen molecular markers for disease diagnosis or drug treatment;

Study on large-scale population genetics and evolution, and population traits.

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Accurate diagnosis, shaping a better life

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