The exome is the part of the human genome that is encoded in proteins. It represents about 1% of the total genome, but contains the instructions for producing all proteins in the human body, which are essential for life and health.
The exome can be analyzed using a technique called exome sequencing, which makes it possible to identify changes in DNA that can cause genetic diseases.
Advantages of Exome Sequencing:
- Accuracy: Exome sequencing is a highly accurate technique that can identify changes in DNA with great reliability.
- Scope: The exome covers most regions of the genome that are responsible for genetic diseases.
- Efficiency: Exome sequencing is faster and cheaper than whole genome sequencing.
Applications of Exome Sequencing:
- Diagnosis of genetic diseases: Exome sequencing can be used to diagnose rare and complex genetic diseases, especially in cases where traditional genetic tests have been inconclusive.
- Identifying disease risks: Exome sequencing can identify changes in DNA that increase the risk of developing diseases in the future, such as cancer, heart disease, and neurodegenerative diseases.
- Family planning: Exome sequencing can be used to identify couples at risk of having children with genetic diseases.
Limitations of Exome Sequencing:
- Interpretation of results: Interpretation of exome sequencing results can be complex and requires specialized medical expertise.
Exome Sequencing: Availability by Country
Exome sequencing is available globally through CPAH (Heráclito Research and Analysis Center) through Nebula in the United States worldwide.
In Brazil, Nebula faces challenges with sending and receiving samples, but still offers the option for those who want to take the test.
For more information about exome sequencing, including availability, coverage and costs, please contact CPAH at: contacto@cpah.eu
Brazil:
- Available in public and private hospitals.
- Coverage: rare, complex genetic diseases or family history.
- Financing: health plan, SUS or patient.
- Reference centers: USP, Sírio-Libanês, UFRJ, UFMG.
Portugal:
- Available in some public and private hospitals.
- Coverage: rare or complex genetic diseases.
- Financing: health plan or patient.
- Reference centers: Hospital de São João, Hospital de Santa Maria.
Spain:
- Available in several public and private hospitals.
- Coverage: rare, complex genetic diseases or family history.
- Financing: Social Security, health plan or patient.
- Reference centers: CNIO, Hospital La Paz, Vall d’Hebron, ISCIII.
U.S:
- Widely available in public and private hospitals.
- Coverage: various diseases.
- Financing: health plan, health insurance or patient.
- Reference centers: Mayo Clinic, Cleveland Clinic, Johns Hopkins.
Angola:
- Limited availability.
- Some private hospitals offer the test.
- Financing: health plan or patient.
- Reference centers: Hospital Luanda Medical Center.
