Investigational Exome Sequencing
Exome sequencing has emerged as one of the mainstays in accurate diagnosis of many genetic diseases, and is being practiced in many centers worldwide. In India we offer the best in class investigative exome sequencing and analysis services to aid the accurate diagnosis of rare genetic diseases.
Exome sequencing is a cheaper alternative to whole genome sequencing wherein the protein-coding exons are selectively captured and sequenced. It is estimated that the protein-coding regions of the genome encompass over 85 percent of the Human disease causing variations.
- Exome sequencing is ideal in situations where the patients present with a genetic disorder, usually caused by more than one gene or when the patient presents with multiple un-explained features.
- Exome sequencing could be prescribed for the patient and family members when patients present with familial inheritance of specific traits.
- Exome sequencing would be extremely useful if you suspect a non-characteristic presentation of a known genetic disease.
- Exome sequencing would be the next step to pursue when a specific genetic test turned negative, despite the patient having characteristic presentations of a disease.
Learn more about from our Product Brochure LC-HSEX-01
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