Clinical Exome Sequencing
Author : Professor Maged Adel Aziz
• Updated at: Aug 15, 2024 •
Clinical exome sequencing OR “CES” is a genetic screening that detects any mutations in protein-coding genes found in DNA.
Bedaya Hospital provides a range of analyzes and tests that serve as a powerful tool that contributes to accurately diagnosing infertility and treating it effectively
Clinical Exome Sequencing “CES”
Clinical exome sequencing is a comprehensive test that examines all protein-coding genes in human DNA. These genes make up only about 1% of complete DNA, but are responsible for producing all proteins in the body. Whole exome sequencing analyzes can help identify genetic mutations that cause a wide range of rare and hereditary diseases.
Clinical Exome Sequencing Test
clinical exome sequencing test is performed according to the following steps:
- First, a blood sample is taken
- Extracting DNA from a blood sample
- Preparing DNA for exon sequencing
- Separating protein-coding genes from DNA
- Identify the sequences of protein-coding genes
- Identify genetic mutations
- Results and conclusion
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What is clinical exome sequencing used for?
clinical exome sequencing helps:
- Identifying rare and hereditary diseases:
clinical exome sequencing helps identify genetic mutations that cause a large number of hereditary diseases, which are difficult to identify or diagnose through traditional means.
- Providing information to patients and their families:
The results of clinical exome sequencing provide important information to the patient and his family about the risk of contracting certain diseases, and screening methods. clinical exome sequencing also provides the best options for prevention and treatment.
- Innovating a new treatment:
The results also contribute to the innovation of new methods for treating genetic and rare diseases.
Who need clinical exome sequencing?
It is recommended to undergo clinical exome sequencing test in the following cases:
- In the case of couples who have a child carrying a genetic mutation.
- If any symptoms appear that indicate a certain genetic disease.
- Family medical history of a hereditary disease.
- Consanguineous marriage.
Genetic diseases that clinical exome sequencing helps detect:
clinical exome sequencing helps detect a very wide range of diseases, including:
- Rare diseases such as Down syndrome, and Mar van Berger syndrome.
- Genetic diseases, (cystic fibrosis)
- Cancers, (Breast, Ovarian, and Uterine Cancers)
- Immune diseases, (ulcerative colitis, rheumatoid arthritis)
- Neurodevelopmental disorders, (autism, schizophrenia)
- Heart diseases, (hypertension, hypercholesterolemia)
- Inherited metabolic disorders, (Wilson's disease)
- Blood diseases, (thalassemia)
- Alzheimer's disease
What are clinical exome sequencing Risks?
- Stress: Waiting for clinical exome sequencing test results often causes stress.
- Discrimination: clinical exome sequencingresults may cause discrimination for some people at their work.
- Lack of clarity: Sometimes clinical exome sequencing gives unclear results, such as revealing a genetic mutation of unknown significance yet .
When is clinical exome sequencing performed?
There is no specific time in which clinical exome sequencing must be performed, but it is recommended to conduct the test in those about to get married, and in the event of suspicion of infection with any rare disease.
