Cystic Fibrosis Mutation Screening CFTR – Del 508 Test
Test Name: Cystic Fibrosis mutation screening CFTR – Del 508 Test
Components: EDTA Vacutainer (2ml)
Price: 1200.0 AED
Sample Condition: Peripheral blood
Report Delivery: 7-8 days
Method: Sanger Sequencing
Test Type: Genetics
Doctor: Gynecologist
Test Department:
Pre Test Information: Cystic Fibrosis mutation screening (CFTR – Del 508) can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.
Test Details:
Cystic Fibrosis (CF) is a genetic disorder that affects the lungs, digestive system, and other organs. It is caused by mutations in the CFTR gene, which is responsible for producing a protein that regulates the movement of salt and water in and out of cells. One of the most common mutations associated with CF is the deletion of three nucleotides (known as Del 508) in the CFTR gene.
CFTR – Del 508 is a mutation in which the amino acid phenylalanine is deleted at position 508 of the CFTR protein. This deletion disrupts the normal function of the protein, leading to the accumulation of thick, sticky mucus in the lungs and other organs.
Mutation screening for CFTR – Del 508 involves analyzing a person’s DNA to determine if they carry this specific mutation. This can be done through various methods, such as polymerase chain reaction (PCR) and DNA sequencing.
The goal of this screening is to identify individuals who are carriers of the CFTR – Del 508 mutation or those who have inherited two copies of the mutation and are therefore at risk of developing CF. Identifying individuals who carry the CFTR – Del 508 mutation is important for several reasons.
Firstly, it allows for genetic counseling and family planning, as carriers have a 50% chance of passing the mutation on to their children. Secondly, it enables early diagnosis and intervention for individuals who have inherited two copies of the mutation, as early treatment can help manage symptoms and improve quality of life.
In recent years, advances in genetic testing technology have made CFTR mutation screening more accessible and accurate. This has allowed for earlier and more accurate diagnosis of CF and has also facilitated the development of targeted therapies that can specifically address the underlying genetic defect.
Overall, CFTR mutation screening, specifically for CFTR – Del 508, plays a crucial role in the diagnosis, management, and prevention of cystic fibrosis. By identifying individuals who carry this mutation, healthcare providers can provide appropriate care and support to affected individuals and their families.
Test Name | Cystic Fibrosis mutation screening CFTR – Del 508 Test |
---|---|
Components | EDTA Vacutainer (2ml) |
Price | 1200.0 AED |
Sample Condition | Peripheral blood |
Report Delivery | 7-8 days |
Method | Sanger Sequencing |
Test type | Genetics |
Doctor | Gynecologist |
Test Department: | |
Pre Test Information | Cystic Fibrosis mutation screening (CFTR – Del 508 ) can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad. |
Test Details |
Cystic Fibrosis (CF) is a genetic disorder that affects the lungs, digestive system, and other organs. It is caused by mutations in the CFTR gene, which is responsible for producing a protein that regulates the movement of salt and water in and out of cells. One of the most common mutations associated with CF is the deletion of three nucleotides (known as Del 508) in the CFTR gene. CFTR – Del 508 is a mutation in which the amino acid phenylalanine is deleted at position 508 of the CFTR protein. This deletion disrupts the normal function of the protein, leading to the accumulation of thick, sticky mucus in the lungs and other organs. Mutation screening for CFTR – Del 508 involves analyzing a person’s DNA to determine if they carry this specific mutation. This can be done through various methods, such as polymerase chain reaction (PCR) and DNA sequencing. The goal of this screening is to identify individuals who are carriers of the CFTR – Del 508 mutation or those who have inherited two copies of the mutation and are therefore at risk of developing CF. Identifying individuals who carry the CFTR – Del 508 mutation is important for several reasons. Firstly, it allows for genetic counseling and family planning, as carriers have a 50% chance of passing the mutation on to their children. Secondly, it enables early diagnosis and intervention for individuals who have inherited two copies of the mutation, as early treatment can help manage symptoms and improve quality of life. In recent years, advances in genetic testing technology have made CFTR mutation screening more accessible and accurate. This has allowed for earlier and more accurate diagnosis of CF and has also facilitated the development of targeted therapies that can specifically address the underlying genetic defect. Overall, CFTR mutation screening, specifically for CFTR – Del 508, plays a crucial role in the diagnosis, management, and prevention of cystic fibrosis. By identifying individuals who carry this mutation, healthcare providers can provide appropriate care and support to affected individuals and their families. |