The clinical exome testing in a targeted DNA test helps with the identification of genetic disorders in humans caused due by exome sequence or gene variation. As 85% of the disease-causing variants are present with the 1% of the exome comprising the exons and splice junction, it helps in identifying the pre-disposition of genetic disease.
The clinical exome sequencing test in Gurgaon is quite affordable as compared to the sequencing and analysis of the whole genome. This is because the test is conducted on a specific portion rather than the entire genome. The high throughput technology helps with sequencing and producing an accurate result from the diagnosis.
The exome test helps in detecting a range of genetic disorders, rare diseases, inherited cancer or predisposition, metabolic conditions due to gene variation, phenotype conditions etc. The new exome screening technology gives coverage of disease-associated genes including deep intronic variants, coding variants and splice variants along with protein-encoding genes.
How Does the Test Benefit?
The clinical exome test is helpful for screening for any aggressive or asymptomatic genetic condition. It is highly recommended for individuals with a family history of genetic disorders or conditions. Getting a test prescribed does not mean there is something wrong but just a precautionary measure.
Here are the reasons the clinical exome sequencing is suggested by doctors:
- Family history with underlying genetic etiology or symptoms related to genetic disorder or condition.
- It helps with screening for genetically heterogeneous diseases and finding any undiagnosed genetic disease.
- Get confirmation of any suspected genetic condition.
- It helps with better family planning through assessment of recurrence risk or finding out any genetic variation before planning for a child.
The exome sequencing cost in India is affordable and provides coverage of most of the known pathogenic mutations. It helps with finding out deep intronic as well as promoter pathogenic mutations. The method however is not enough for detecting translocations, gross chromosomal rearrangements, methylation as well as repeat expansions.
Cost of the Test and where it can be Done?
The clinical exome sequencing test price is cost-effective as compared to the traditional whole-genome sequencing testing. The test is available across most of the advanced genetic diagnostic labs across India. The technology and sequencing process might vary from lab to lab but irrespective produces accurate results. The time taken for the result production varies and mostly takes a week or two.
The clinical exome test in India costs starts from Rs 22,000 and it may go higher depending on the location. Most of the diagnostic and genetic screening labs provide free guidance and counselling by certified genetic counsellors pre and post genetic screening. Pre-screening counselling help individuals to know more about the test. In case the results come out positive for any genetic variation, further counselling is required to plan the next course of action and therapy.
