Did you know that the exome is only 1 percent of your genome? And these small portions can affect up to 85 percent of your health? The exome is part of your genome, an entire DNA or genetic information containing different body functions.
Most of the diseases identified and studied can be determined with the help of clinical exome sequencing. A clinical exome test is a powerful tool that can help identify the reason behind your various health and developmental problems from your DNA.
What is Clinical Exome Sequencing?
The exome sequencing helps identify ‘variants’ or ‘mutations’, which may be responsible for the genetic diseases, thereby affecting an individual’s health. Clinical exome sequencing is a genetic test of DNA that detects the molecular basis of a genetic disorder in individuals. People with a genetically heterogeneous disease and/or an atypical presentation of a genetic disorder can take the test from any reputed molecular diagnostic laboratories.
Why Doctors Recommend Clinical Exome Testing
The clinical exome test looks for complex health and developmental problems that may be because of a suspected genetic disease. In many cases, the clinical exome looks for answers to the health questions where many past tests have failed.
Many specialists, like neurologists and geneticists, use clinical exome tests to investigate specific causes of well-known but poorly understood medical conditions, including brain malformations or rare and complex genetic disorders.
Types of genetic variants
Usually, genetic variants come under three categories:
Pathogenic variants-these may cause specific genetic disease
Benign variants – may not cause genetic conditions.
Variants of unknown significance – no significant information have been received about this class of variants. They usually require the genetic counsellors to delve into the family studies to help determine their clinical significance.
Doctors recommend clinical exome sequencing tests to individuals such as:
- A family history of underlying genetic aetiology
- Identify genetically heterogeneous diseases
- Patient with an undiagnosed rare disease
- To facilitate medical treatment or deciding on a course of treatment
- To confirm the suspected genetic disease
- To decide on reproductive planning
- Find the probability of your child inheriting the rare genetic disease
- For prognosis
Some of the clinical disorders in which the clinical exome test is used for:
- Rare Diseases
- Inherited Cancers
- Neurology
- Cardiology
- Endocrinology
- Nephrology
- ENT and others
The Benefits of Clinical Exome Sequencing Test
The exome sequencing test is also known as the Next Generation Sequencing or NGS. Unlike the traditional genetic test, which analyses one specific gene at a time, NGS can examine multiple genes. The test is useful when the patient contains more than one gene having a variant or mutation.
Clinical Exome Sequencing Price is also cost-effective. With a fraction of the price, you can find out the rare genetic disease you have been suffering from.
Other Benefits of Clinical exome test:
- A holistic and comprehensive method to analyse DNA to detect any abnormalities
- Utilised to detect autosomal dominant, recessive and X-linked disorders
- Clinical Exome Sequencing Price is reasonable compared to what most other western charge
- Identify both novels and reported mutations
- Analyse and detect clinically relevant disease-causing gene mutations
Clinical exome sequencing is a safe, secure, highly accurate and reliable test. Leverage the benefits of this test to find out any genetic disorder.
