Exome Sequencing

We provide Exome Sequencing services, using the selective capture and sequencing of protein coding regions of the patient's genome. Using downstream analysis and subsequent diagnostic interpretation of disease causing mutations, this targeted sequencing will provide clinicians with actionable information. Exome sequencing will enable the identification of DNA changes that may be responsible for the patient's disorder.

Compared to whole genome sequencing, exome sequencing is more cost effective and also provides better per base coverage. As next-generation sequencing technologies have made exome sequencing affordable to both clinicians and patients, it has become more accessible to them as well. We perform exome capture using Roche NimbleGen SeqCap EZ, Agilent SureSelect and Illumina TruSeq capture, and run the library on Illumnia's HiSeq platform to typically generate paired end 2 x 100bp sequence reads with 50-100x coverage.

For exome sequencing data analysis, we have developed a pipeline for performing various bioinformatics analysis including alignment, high quality variant calling and comprehensive annotation.

When to opt for exome sequencing:

Exome sequencing is useful for:

Patients with rare genetic disorders as it can help provide some insight into these disorders and the associated disease risk.

At risk and existing cancer patients who can establish genetic changes in the tumor and thus assist in therapeutic decisions.

Children who have been diagnosed with an inherited disorder, the presence or absence of same mutation in the parent can be revealed. Also if such a variation is present, the next child will have a higher probability of getting the same disease. Thus, timely information on inherited changes can help parents take informed decisions.

Identifying mutations in novel genes. If your illness is not associated with a known gene, then exome sequencing could help identify possible genetic variants responsible. Instead of spending years in a state of uncertainty, this test could help find the cause of your disorder.

Identifying cancer causing genes if you are suffering from a form of cancer whose cause can be linked to new or several genes. Exome sequencing will help identify the cancer causing genes and the driving mutations in present. This will help guide the physician to the right treatment options.

Hereditary cancer, especially if you have history of cancer in your family. Exome sequencing will help better predict the cancer risk so you can take preventive steps to fight the onset of cancer.

Diagnosing diseases associated with multiple genes. If your illness is associated with multiple genes, exome sequencing allows you to sequence all the protein coding regions of the genome. This will be a more cost effective option for a patient as the alternative is to do multiple single gene sequencing tests.

Requirements Prior to Testing:

The Whole Exome Sequencing test has to be prescribed by a physician and must be accompanied with a signed consent form from the patient.

The test result will be sent to the physician directly. The patient will have to consult his/her physician to understand the results and its impact on his/her medical ailment and treatment.