What is Whole Exome Sequencing?
Exome sequencing is an advanced genetic testing method that sequences only the exons of the genome— the protein-coding regions that account for about 1-2% of your entire DNA. Despite their small proportion, exons play a crucial role in determining most of an organism’s traits and susceptibility to diseases. This highly efficient method allows for the identification of genetic variants linked to a wide range of inherited diseases and conditions, offering valuable insights into your genetic health.

Unlike whole genome sequencing (WGS), which analyzes the entire genome, exome sequencing specifically targets the parts of the genome most directly involved in protein production. By focusing on these critical regions, exome sequencing provides a faster, more cost-effective solution for diagnosing genetic disorders, including those that are rare or complex.
Through detailed bioinformatics analysis, we help uncover genetic variants that may be responsible for diseases, offering more targeted and accurate diagnostic information. In clinical settings, it helps diagnose genetic conditions that are difficult to detect with traditional methods, guiding doctors in developing personalized treatment plans
Precise Identification of Disease-Related Variants

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✔️ Rare Genetic Disorders: Diseases that manifest from birth or have a genetic origin
✔️ Cancer Genetics: Investigating the relationship between genetic mutations and cancer
✔️ Neurological Disorders: Neurodegenerative diseases like Alzheimer’s and Parkinson’s
✔️ Hereditary Metabolic Disorders: Diseases like phenylketonuria and albinism
✔️ Vision and Hearing Loss: Genetic-related vision or hearing impairments
✔️ FASTQ: Raw sequencing data
✔️ BAM: Mapped genome data
✔️ VCF: Variant (mutation) analysis file Additionally, bioinformatics analysis reports and interpreted genetic data can be provided upon request.
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