Clinical Exome sequencing is the Next Generation DNA Sequencing test that identifies the molecular basis of genetic disorders in individuals. People who are predisposed towards genetically heterogeneous diseases or a typical presentation of a genetic disorder are recommended clinical exome sequencing tests by doctors. The Exome sequencing test encompasses the entire genes known to be associated with rare diseases.
So why should you as a parent be concerned? Read the article as we resolve most of your doubts regarding clinical exome sequencing.
Genes Holds the Clue
Genes are found in chromosomes which comprises DNA. We inherit our genes from our mother and father. Our genes dictate how our body will function. When genes are normal, they work in balance. But when some genes are abnormal or damaged, it can result in disease. These are called gene mutations. Some mutations run in the families. These occur due to chance and are called hereditary or inherited diseases and conditions.
The next question is how do you find the mutations?
The answer lies in Clinical exome sequencing.
Clinical Exome sequencing is a test used to survey genomes and identify disease-causing DNA variants.
Clinical exome sequencing is intended for use in conjunction with the clinical presentation and other markers of disease progression. Known DNA variants cause more than 7000 rare diseases. Unfortunately, many people do not go for a molecular diagnostic test that detects any genetic disorder.
In such cases, it becomes important for parents to understand their genetic disposition or DNA variants to know if they might be carriers of some genetic diseases.
The Next Generation DNA Sequencing is a powerful diagnostic tool for individual patients to identify disease-causing DNA variants inside the one percent genome.
During the Clinical Exome Sequencing, only clinical established disease-causing genes are surveyed. With the help of exome sequencing, you not only reduce the need for multiple costly single-gene sequencing tests but also drastically reduce the odds of high-risk variants.
Should You Take a Clinical Exome Sequencing Test?
Doctors usually recommend clinical exome tests when the family history is suggestive of an underlying genetic etiology. You can avail exome sequencing test to
- Screen for genetically heterogeneous diseases
- Observe an undiagnosed genetic disease in a patient
- Avail quick medical intervention and treatment
- Ascertain the suspected genetic diagnosis
- Manage and spearhead reproductive planning and assessment of recurrence risk
- Determine a prognosis due to family medical history
Clinically exome sequencing is used for a range of disorders across such as:
- Rare Diseases
- Inherited Cancers
- Neurology
- Cardiology
- Endocrinology
- Nephrology
- ENT
- Others
Doctors advise parents/children to get themselves tested to determine the carrier status or for diagnosing any genetic disorder. Depending on the requirement, there are panels in the CES which doctors instruct as per the case. This information usually guides parents to be or the parents whose child is suffering from some unknown disease. Clinical exome sequencing tests are comprehensive genomics assessments and genome-wide effectively targeted tests.
