Cystic Fibrosis Mutation Screening CFTR – Del 508 Prenatal Test
Test Name: Cystic Fibrosis mutation screening CFTR – Del 508 Prenatal Test
Components: Sterile container / Sterile Normal Saline Container / EDTA Vacutainer (2ml)
Price: 2100.0 AED
Sample Condition: Amniotic fluid / Chorionic villi / Cord 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) Prenatal 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 caused by mutations in the CFTR gene. One of the most common mutations associated with CF is the deletion of three nucleotides (Del 508) in the CFTR gene. This mutation leads to the production of a defective CFTR protein, which affects the normal functioning of the respiratory, digestive, and reproductive systems.
Prenatal screening for the CFTR – Del 508 mutation is performed to identify whether a fetus has inherited this specific mutation from their parents. This screening is usually recommended for couples who have a family history of CF or are carriers of CFTR gene mutations.
There are several methods available for prenatal CF mutation screening, including:
- Chorionic villus sampling (CVS): This procedure involves the removal of a small sample of cells from the placenta. These cells are then analyzed to determine if the CFTR – Del 508 mutation is present.
- Amniocentesis: In this procedure, a small amount of amniotic fluid is extracted from the amniotic sac surrounding the fetus. The cells in the fluid are then tested for the CFTR – Del 508 mutation.
- Non-invasive prenatal testing (NIPT): This is a newer screening method that involves analyzing the fetal DNA present in the mother’s blood. NIPT can detect the presence of specific genetic mutations, including the CFTR – Del 508 mutation.
The results of prenatal CF mutation screening can help parents make informed decisions about their pregnancy and plan for the future. If the fetus is found to have inherited the CFTR – Del 508 mutation, further diagnostic testing may be recommended to confirm the diagnosis.
It is important to note that CF is a complex disorder caused by various mutations in the CFTR gene. While the CFTR – Del 508 mutation is the most common, there are many other mutations that can cause CF. Therefore, prenatal screening for CF should ideally include testing for a panel of CFTR gene mutations to provide a comprehensive assessment of the risk.
Test Name | Cystic Fibrosis mutation screening CFTR – Del 508Prenatal Test |
---|---|
Components | Sterile container / Sterile Normal Saline Container / EDTA Vacutainer (2ml) |
Price | 2100.0 AED |
Sample Condition | Amniotic fluid \/ Chorionic villi \/ Cord 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) Prenatal ] 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 caused by mutations in the CFTR gene. One of the most common mutations associated with CF is the deletion of three nucleotides (Del 508) in the CFTR gene. This mutation leads to the production of a defective CFTR protein, which affects the normal functioning of the respiratory, digestive, and reproductive systems. Prenatal screening for the CFTR – Del 508 mutation is performed to identify whether a fetus has inherited this specific mutation from their parents. This screening is usually recommended for couples who have a family history of CF or are carriers of CFTR gene mutations. There are several methods available for prenatal CF mutation screening, including: 1. Chorionic villus sampling (CVS): This procedure involves the removal of a small sample of cells from the placenta. These cells are then analyzed to determine if the CFTR – Del 508 mutation is present. 2. Amniocentesis: In this procedure, a small amount of amniotic fluid is extracted from the amniotic sac surrounding the fetus. The cells in the fluid are then tested for the CFTR – Del 508 mutation. 3. Non-invasive prenatal testing (NIPT): This is a newer screening method that involves analyzing the fetal DNA present in the mother’s blood. NIPT can detect the presence of specific genetic mutations, including the CFTR – Del 508 mutation. The results of prenatal CF mutation screening can help parents make informed decisions about their pregnancy and plan for the future. If the fetus is found to have inherited the CFTR – Del 508 mutation, further diagnostic testing may be recommended to confirm the diagnosis. It is important to note that CF is a complex disorder caused by various mutations in the CFTR gene. While the CFTR – Del 508 mutation is the most common, there are many other mutations that can cause CF. Therefore, prenatal screening for CF should ideally include testing for a panel of CFTR gene mutations to provide a comprehensive assessment of the risk. |