Cystic Fibrosis Mutation Screening (CFTR - Del 508) Test: Booking, Price, and Results
About Cystic Fibrosis Mutation Screening (CFTR - Del 508) Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | CFTR Delta F508 mutation test, CF genetic test, Cystic fibrosis carrier screening (Del 508), F508del mutation test |
| Sample Type | Peripheral blood (EDTA tube), buccal swab/saliva, CVS, amniotic fluid, cord blood, or other clinically indicated tissue |
| Fasting Required | No fasting required |
| Report Time | 15 days |
| Recommended For | All genders and ages; especially newborns, individuals with CF symptoms, couples planning pregnancy, and those with a family history of CF |
| Price | Starting at ₹5,000 |
What is a Cystic Fibrosis Mutation Screening (CFTR - Del 508) Test?
The cystic fibrosis mutation screening (CFTR - Del 508) test looks for a specific change in the CFTR gene known as the F508del (or Delta F508) mutation. This mutation is the most common genetic cause of cystic fibrosis, an inherited condition that causes thick mucus to build up in the lungs, digestive tract, and other organs. The test can be used to diagnose cystic fibrosis, identify carrier status, or support prenatal screening decisions. It is also known as the CFTR Delta F508 Mutation Test or the CF genetic test.
What Does a Cystic Fibrosis Mutation Screening (CFTR - Del 508) Test Measure?
This test analyses the CFTR gene for the presence of the F508del mutation. The CFTR gene provides instructions for making a protein that acts as a channel, moving chloride ions in and out of cells. This process keeps mucus thin and free-flowing. When the F508del mutation is present, the channel does not form properly, and mucus becomes thick and sticky.
The table below summarises what each possible result means.
| Parameter | Result | Interpretation |
|---|---|---|
| F508del Mutation | Not Detected | No F508del mutation found in either copy of the CFTR gene |
| F508del Mutation | Heterozygous (one copy detected) | Carrier status; one mutated copy present, one normal copy |
| F508del Mutation | Homozygous (two copies detected) | Both copies carry the mutation; consistent with cystic fibrosis |
Why is a Cystic Fibrosis Mutation Screening (CFTR - Del 508) Test Done?
A doctor may recommend the cystic fibrosis mutation screening test for several reasons, from investigating symptoms to assessing risk before or during pregnancy.
Common Symptoms That May Require This Test
The following symptoms may prompt a doctor to order this test.
- Recurrent lung infections such as pneumonia or bronchitis
- Persistent cough or frequent wheezing
- Trouble breathing or shortness of breath
- Loose, oily, or foul-smelling stools
- Poor weight gain or slow growth despite a good appetite
- Frequent sinus infections
- Recurrent abdominal discomfort or digestive problems
Conditions This Test Can Help Detect
This test can help identify the following conditions.
- Cystic fibrosis, an inherited disease causing progressive damage to the lungs and digestive system
- Carrier status, where a person carries one mutated copy but does not have symptoms
- Congenital bilateral aplasia of the vas deferens (CBAVD), a CFTR-linked condition that can cause male infertility
- Idiopathic pancreatitis (unexplained inflammation of the pancreas), where a CFTR mutation may be a contributing factor
Cystic Fibrosis Mutation Screening During Pregnancy
Carrier screening for cystic fibrosis is recommended for all individuals considering pregnancy or who are already pregnant, regardless of ethnicity or family history. If one partner is found to be a carrier, the other partner should also be tested. When both parents carry the F508del mutation, there is a 25% chance in each pregnancy of having a child with cystic fibrosis, making early screening an important step in family planning.
How to Prepare and What to Expect
Preparing for the cystic fibrosis mutation screening test procedure is straightforward. The steps below cover what to do before and during your appointment.
Do You Need to Fast?
No fasting is required. You can eat and drink as normal before your sample is collected.
Practical Tips Before Your Test
The following tips will help ensure your sample is collected and processed correctly.
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- If there is a known CFTR variant in your family, inform your doctor or the laboratory before the test, as this helps with result interpretation
- Let your doctor know if you have had a haematopoietic stem cell (bone marrow) transplant from a donor, as this can interfere with the genetic analysis
- Inform your healthcare provider about any medications or supplements you are currently taking
- Drink adequate water before your appointment if a blood sample is being collected, as this makes the blood draw easier
Step-by-Step Procedure
Because this test can be performed on different sample types depending on your clinical situation, the collection method will vary. Below is a description of each method.
Peripheral Blood (EDTA Tube)
- A healthcare professional verifies your identity and confirms the test request.
- The skin over a vein in your arm is cleaned with an antiseptic, and a tourniquet is applied.
- A small blood sample is drawn into a lavender-top EDTA tube.
- The tourniquet is removed, and a small bandage is applied to the site.
- The sample is labelled and stored at 2 to 8 degrees Celsius before dispatch to the laboratory.
- The sample is analysed using Sanger Sequencing to detect the F508del mutation.
Buccal Swab or Saliva
- A healthcare professional verifies your identity and confirms the test request.
- A soft swab is gently rubbed against the inside of your cheek, or you provide a saliva sample into a sterile collection tube.
- The swab or tube is sealed, labelled, and stored correctly for dispatch.
- No needles are involved; the process is quick and painless.
Chorionic Villus Sampling (CVS)
- This procedure is performed by a trained specialist, typically during the first trimester of pregnancy.
- A small sample of placental tissue (approximately 30 mg) is collected via a thin needle or catheter, guided by ultrasound.
- The tissue is placed in a sterile container and stored at 2 to 8 degrees Celsius.
- The sample is sent to the laboratory for Sanger Sequencing analysis.
Amniotic Fluid
- A specialist performs amniocentesis, usually during the second trimester.
- A thin needle is guided by ultrasound into the amniotic sac to collect a small fluid sample.
- The sample is sealed, labelled, and dispatched under appropriate storage conditions.
Cord Blood
- Cord blood is collected at the time of delivery from the umbilical cord.
- The sample is placed in a sterile container and processed promptly.
- It is dispatched to the laboratory for genetic analysis.
Factors That Can Affect Accuracy
The following factors may affect the reliability of your results.
- A previous bone marrow transplant from a donor, which can affect DNA analysis
- Use of an incorrect sample tube (green-top heparin tubes are not acceptable)
- Freezing the blood sample, which damages the specimen
- Poor sample quality or delays in processing
- The presence of other rare CFTR mutations not covered by this specific test
Understanding Your Cystic Fibrosis Mutation Screening (CFTR - Del 508) Test Results
Results from the cystic fibrosis mutation screening test are reported as not detected, heterozygous, or homozygous. Your doctor will review these findings alongside your symptoms, family history, and any other relevant clinical information.
| Result | Meaning |
|---|---|
| Not Detected (Negative) | The F508del mutation was not found; other rare CFTR mutations may still be present |
| Heterozygous (Carrier) | One copy of the F508del mutation is present; the individual is a carrier but does not have CF |
| Homozygous (Affected) | Both copies carry the mutation; consistent with a diagnosis of cystic fibrosis |
These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
Results During Special Conditions
Predicting individual outcomes based on CFTR genotype alone is not straightforward. Environmental factors and other genes also influence how cystic fibrosis presents. A negative result for the F508del mutation does not completely rule out cystic fibrosis, as over 2,000 other CFTR mutations exist, and this test screens specifically for F508del.
How to Maintain Healthy Levels
Because this is a genetic test, results cannot be changed through diet or lifestyle. The following steps are relevant after receiving your results.
- If you are found to be a carrier, seek genetic counselling before planning a family.
- If your partner has not been tested and you are a carrier, discuss partner testing with your doctor.
- Couples who are both carriers should speak with a genetic counsellor to understand their options.
Lupin Diagnostics Cystic Fibrosis Mutation Screening (CFTR - Del 508) Test Price and Home Collection
The cystic fibrosis mutation screening test cost at Lupin Diagnostics starts at ₹5,000, and home sample collection is available for blood and buccal swab samples across participating cities.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 5000 |
| CHENNAI | 5000 |
| HYDERABAD | 5000 |
| KOLKATA | 5000 |
| NAVI MUMBAI | 5000 |
| PUNE | 5000 |
Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
The cystic fibrosis mutation screening test online booking process is simple and takes only a few minutes.
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred time slot.
- Opt for home sample collection by a certified phlebotomist, or visit your nearest Lupin Diagnostics centre.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Home Collection
Cystic fibrosis mutation screening test home collection is available for blood and buccal swab samples across cities served by Lupin Diagnostics. All samples are processed in NABL-accredited laboratories by trained professionals. Your digital report is shared securely via email or WhatsApp once ready.
Frequently Asked Questions
The F508del mutation is a deletion of a small segment of the CFTR gene, which removes one amino acid (phenylalanine) at position 508 of the CFTR protein. The resulting protein breaks down before it can reach the cell surface, meaning chloride transport is lost entirely. This is the most common mutation linked to cystic fibrosis worldwide.
This test is recommended for individuals with symptoms of cystic fibrosis, siblings or close relatives of a person with CF, couples planning pregnancy, and those who have been identified as carriers. Newborns with abnormal newborn screening results may also be referred for this test.
A carrier has one normal copy and one mutated copy of the CFTR gene. Carriers do not develop cystic fibrosis themselves, as one working copy of the gene is sufficient. However, they can pass the mutated copy to their children. If both parents are carriers, each pregnancy carries a 25% chance of the child having CF.
No. This test specifically screens for the F508del mutation, which accounts for roughly 30 to 80% of CF cases worldwide. More than 2,000 other CFTR mutations exist. A negative result reduces the likelihood of CF caused by this mutation, but does not completely exclude all other variants. Your doctor may recommend a broader mutation panel if clinically indicated.
The report is typically available within 15 days of the laboratory receiving the sample. You will receive your digital report via email or WhatsApp through Lupin Diagnostics.
Genetic counselling is strongly recommended, especially if you are found to be a carrier or if you have a family history of cystic fibrosis. A genetic counsellor can help you understand what your result means for you and your family, and guide decisions around family planning or further testing.
If both parents carry the F508del mutation, each pregnancy has a 25% chance of the child having cystic fibrosis, a 50% chance of the child being an unaffected carrier, and a 25% chance of the child being completely unaffected. Prenatal diagnostic options such as CVS or amniocentesis can be discussed with your doctor and genetic counsellor.
Cystic Fibrosis Mutation Screening (CFTR - Del 508) Test: Booking, Price, and Results
