Exome Screening

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Exome Screening

Exome screening is used to diagnose for unidentified hereditary diseases or polygenic
diseases; that usually involve two or more genes interacting. In this screening process,
regions of tens of thousands of genes are analyzed at the same time to gather results
indicating the presence of an unknown hereditary disease.

Who is the right candidate for exome screening?

Exome screening is recommended to couples who expect that either one of them carries an
unidentified genetic disease or polygenic disease. Therefore, the right candidate for exome
screening is:

  • Either spouse in a couple with an unknown history of hereditary disease
  • Couples who once had a genetically abnormal child
  • Couples with close relatives having an unknown history of genetic disease

Seeds of innocence expertise

Our team of specialists will initiate the process of screening by accessing your health &
medical history, followed by deciding the course of action for conducting exome screening.


Q. How accurate is whole-exome sequencing?

It is not possible to capture & sequence 100% of the exome at high quality. On average, more than 99.4% of the exome sequence is captured to provide reliable variant calls. In rare and ultra-rare cases, exome screening can provide a diagnosis of up to 50% of the cases.

Q. Is Next Generation Sequencing the same as whole-genome sequencing?

No, these two are not the same. Next-generation sequencing is a type of sequencing technology. It essentially means all of the post-Sanger sequencing technologies. On the other hand, Whole-genome sequencing” is a sequencing application. It essentially means sequencing the entire genome of an organism.

Q. What can whole genome sequencing reveal?

Whole-genome sequencing can reveal information related to the DNA of an individual, but, also probable DNA sequence of close genetic relatives.

Q. What is a clinical exome?

The Clinical Exome analysis is used to investigate any complex health and developmental
problem that is suspected of having a genetic cause. This testing is commonly used when
other analysis fails to determine the cause of health problems.