Cystic fibrosis - CFTR (delta508 mutation) in Mahuva
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Cystic fibrosis - CFTR (delta508 mutation)1
FAQ
How is Cystic Fibrosis treated?
Treatment focuses on managing symptoms and preventing complications. It includes chest physiotherapy, medications to thin mucus, antibiotics for infections, pancreatic enzyme supplements for digestion, and nutritional support. Newer treatments target the underlying cause of CF in those with specific genetic mutations.
Why is early diagnosis of CF important?
Early diagnosis allows for the start of treatment and management strategies, which can help reduce complications, improve quality of life, and extend lifespan.
What is the significance of being a carrier of the CFTR mutation?
Carriers often do not have symptoms but have a chance of passing the mutation to their children. If both parents are carriers, there’s a 25% chance with each pregnancy of having a child with CF.
How can knowing your CFTR mutation status be beneficial?
Early diagnosis and intervention in CF can improve quality of life and life expectancy. For carriers, it provides vital information for family planning.
Is Cystic Fibrosis curable?
There is currently no cure for CF, but treatment advancements have significantly improved the quality of life and life expectancy for individuals with the condition.
What are the symptoms of Cystic Fibrosis?
Common symptoms include persistent cough, frequent lung infections, wheezing or shortness of breath, poor growth, and greasy, bulky stools. Symptoms can vary in severity and type among different individuals.
What could happen if Cystic Fibrosis is not diagnosed?
Undiagnosed or untreated CF can lead to severe respiratory and digestive problems, including chronic lung infections, progressive lung damage, nutritional deficiencies, and reduced life expectancy.
What does a positive result indicate?
A positive result indicates the presence of the Delta F508 mutation in the CFTR gene, suggesting a diagnosis of CF or identifying a carrier of the mutation.
What other packages does Sterling Accuris offer?
Sterling Accuris offers a range of packages including Senior citizen (male and female) package, healthy heart profile, diabetes profile, vitamin profile, covid immunity package and much more. Visit our website to learn more about these packages.
What makes Sterling Accuris a better pathology lab than others?
For us, precision care, safe sample collection, timely delivery of reports, and precise reporting of patient results while adhering to health and safety precautions are the cornerstone of our success.
Do you provide home visit/collection service?
Yes. We do provide home collection services at your doorstep.
Please go ahead and book your visit today from our top menu options in this website / chat or do call us on 812 813 0000.
How long does it take to receive test results?
Though most tests are completed and reported within about 24 hours of receiving the sample for testing, certain tests take several days to weeks.
Your soft copy will be sent on registered email id and Whatsapp. Also, you will receive SMS with link to download your report. Also, your report is available on our website / app.
To know the status of the report, you can call our customer care team on 812 813 0000.
Is there any preparation or precautions for patient before tests or body checkup?
Fasting maybe required in case of a few tests to ensure accurate results.
In general, it is also advisable to abstain from alcohol and heavy diet at least for 24 hours before any health test. You can see the requirement for each test on the product page on our website / app.
Cystic Fibrosis - CFTR (Delta F508 Mutation) Test in Mahuva
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Sterling Accuris Diagnostics offers the Cystic Fibrosis - CFTR (Delta F508 Mutation) Test in Mahuva, a specific genetic test for detecting the most common mutation associated with Cystic Fibrosis.
Overview of the Cystic Fibrosis - CFTR (Delta F508 Mutation) Test
Cystic Fibrosis (CF) is a genetic disorder that affects the lungs and digestive system. It causes the production of thick, sticky mucus, which can clog airways and trap bacteria, leading to repeated lung infections and lung damage. It also affects the pancreas, impeding the release of digestive enzymes. The Delta F508 mutation in the CFTR gene is the most common cause of CF. The Cystic Fibrosis - CFTR (Delta F508 Mutation) Test in Mahuva helps diagnose CF or identify mutation carriers.
The methodologies used for testing the CFTR (Delta F508 Mutation), specifically for Cystic Fibrosis, typically include:
- Polymerase Chain Reaction (PCR): PCR is used to amplify the specific segment of DNA containing the CFTR gene, making it easier to analyse for mutations like Delta F508.
- DNA Sequencing: Once the specific DNA segment is amplified, DNA sequencing, such as Sanger sequencing, is employed to read the genetic code at the location of the Delta F508 mutation, confirming its presence or absence.
Why and When is the Cystic Fibrosis - CFTR (Delta F508 Mutation) Test Done?
This test is crucial for:
- Individuals with symptoms suggestive of Cystic Fibrosis, like persistent lung infections and pancreatic insufficiency.
- Newborn screening for CF.
- Couples with a family history of CF are considering having children.
- Family members of a person diagnosed with CF to determine carrier status.
Cystic Fibrosis - CFTR (Delta F508 Mutation) Test: Main Highlights
- Instructions: No special fasting is required. A doctor’s prescription is necessary.
- Recommended Age: Suitable for individuals of all ages, from newborns to adults.
- Sample Type for Test: Typically, a blood sample is collected in an EDTA tube.
- TAT: Results are generally available within 1-2 weeks.
Opting for Sterling Accuris Diagnostics in Mahuva for CF Testing
Sterling Accuris Diagnostics utilises advanced genetic testing technologies to detect the Delta F508 mutation accurately. Our commitment to precision and quality ensures reliable results for crucial health decisions. Choose our services in Mahuva for comprehensive CF testing.
Book your Cystic Fibrosis - CFTR (Delta F508 Mutation) Test in Mahuva with Sterling Accuris today for accurate diagnosis and informed health management.
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