Cystic Fibrosis Mutation Screening CFTR - Del 508 G551DR553X G542X Test sale cost 1500 AED
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Cystic Fibrosis Mutation Screening CFTR – Del 508 G551DR553X G542X Test Cost

Original price was: 2,000 د.إ.Current price is: 1,500 د.إ.

-25%

Cystic Fibrosis (CF) is a severe genetic disorder that primarily affects the lungs and digestive system due to the production of thick and sticky mucus. It is caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene. Among the numerous mutations identified, the most common ones include DelF508, G551D, G542X, and R553X. The “Cystic Fibrosis Mutation Screening CFTR – Del 508 G551D R553X G542X Test” is a comprehensive genetic test designed to detect these specific mutations in the CFTR gene.

This test is crucial for early diagnosis, which can significantly impact the management and treatment of cystic fibrosis. It is also valuable for family planning purposes, allowing potential parents to understand their risk of having a child with CF. Conducted at DNA Labs UAE, a leading facility in genetic testing, this screening ensures accuracy and reliability in results.

The cost of the test is 1500 AED, a worthwhile investment for individuals seeking detailed insights into their genetic predisposition to cystic fibrosis. By choosing to undergo this test at DNA Labs UAE, patients can expect state-of-the-art services, confidentiality, and professional guidance throughout the testing process.

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Cystic Fibrosis Mutation Screening CFTR – Del 508 G551DR553X G542X Test

Test Cost: AED 1500.0

Symptoms and Diagnosis

Cystic Fibrosis Mutation Screening (CFTR – Del 508, G551D/R553X, G542X) is a genetic test that helps in the diagnosis of cystic fibrosis, a genetic disorder affecting the lungs, pancreas, and other organs. This test looks for specific mutations in the CFTR gene, which is responsible for regulating salt and water movement in and out of cells.

Test Components

  • EDTA Vacutainer (2ml)

Price: AED 1500.0

Sample Condition

This test requires a peripheral blood sample for analysis.

Report Delivery

The test results will be delivered within 3-4 days.

Method

The Cystic Fibrosis Mutation Screening CFTR – Del 508 G551DR553X G542X Test is performed using the End Point PCR method.

Test Type

This test falls under the category of Genetics.

Doctor

This test can be requested by a General Physician.

Test Department

This test is conducted in the Genetics department.

Pre Test Information

Cystic Fibrosis Mutation Screening (CFTR – Del 508, G551D/R553X, G542X) can be done with a doctor’s prescription. However, the prescription is not applicable for surgery and pregnancy cases or individuals planning to travel abroad.

Test Details

Cystic Fibrosis Mutation Screening is a genetic test that identifies specific mutations in the CFTR gene. The CFTR – Del 508 mutation is the most common mutation found in individuals with cystic fibrosis. It involves the deletion of a single amino acid (phenylalanine) at position 508 of the CFTR protein, leading to the production of a faulty CFTR protein. The G551D and R553X mutations are two other common mutations in the CFTR gene that result in nonfunctional CFTR proteins. The G542X mutation is also a common mutation that leads to the production of a faulty CFTR protein.

Screening for these specific mutations is crucial for the diagnosis of cystic fibrosis and carrier testing for individuals with a family history of the disease. Identifying these mutations can provide important information for treatment options and family planning.

Test Name Cystic Fibrosis Mutation Screening CFTR – Del 508 G551DR553X G542X Test
Components EDTA Vacutainer (2ml)
Price 1500.0 AED
Sample Condition Peripheral blood
Report Delivery 3-4 days
Method End Point PCR
Test type Genetics
Doctor General Physician
Test Department:
Pre Test Information Cystic Fibrosis Mutation Screening (CFTR – Del 508, G551D/R553X, G542X) 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 Mutation Screening is a genetic test that looks for specific mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene. This gene provides instructions for making a protein that is involved in the movement of salt and water in and out of cells. Mutations in this gene can lead to the development of cystic fibrosis, a genetic disorder that affects the lungs, pancreas, and other organs.

The CFTR – Del 508 mutation is the most common mutation found in individuals with cystic fibrosis. It involves the deletion of a single amino acid (phenylalanine) at position 508 of the CFTR protein. This mutation disrupts the normal function of the protein, leading to the production of a faulty CFTR protein that is unable to regulate salt and water movement properly.

The G551D and R553X mutations are two other common mutations found in the CFTR gene. The G551D mutation involves a change in the amino acid at position 551 of the CFTR protein, while the R553X mutation is a nonsense mutation that leads to the premature termination of protein synthesis. Both mutations result in the production of nonfunctional CFTR proteins.

The G542X mutation is another common mutation found in individuals with cystic fibrosis. It involves a change in the amino acid at position 542 of the CFTR protein and leads to the production of a faulty CFTR protein.

Screening for these specific mutations is important in the diagnosis of cystic fibrosis, as well as in carrier testing for individuals with a family history of the disease. Identifying these mutations can help guide treatment options and provide important information for family planning.

SKU: TEST-5139 Category:

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