DMD Mutation Screening (79 Exons) [Prenatal] Test: Booking, Price, and Results
About DMD Mutation Screening (79 Exons) [Prenatal] Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | DMD Gene Mutation Analysis (Prenatal) test, Dystrophin Gene Screening (Prenatal) test, DMD/BMD Prenatal Genetic Test, Duchenne Prenatal Diagnosis test |
| Sample Type | Chorionic Villus (CVS), Amniotic Fluid, or Cord Blood |
| Fasting Required | No |
| Report Time | 15 days |
| Recommended For | Pregnant women who are confirmed carriers of a DMD gene mutation or have a family history of Duchenne or Becker muscular dystrophy |
| Price | Starting at ₹18,000 |
What Is a DMD Mutation Screening (79 Exons) [Prenatal] Test?
The DMD mutation screening (79 Exons) [Prenatal] test is a specialised genetic test performed during pregnancy. It examines all 79 exons (coding segments) of the dystrophin gene in foetal DNA to identify mutations that cause Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD). It is also known as Dystrophin Gene Screening (Prenatal) test or Duchenne Prenatal Diagnosis. The test is recommended only for at-risk pregnancies, not as a routine screen for all expectant mothers.
What Does a DMD Mutation Screening (79 Exons) [Prenatal] Test Measure?
This is a qualitative genetic test. Rather than producing numerical values, it analyses foetal DNA for specific changes across all 79 exons of the DMD gene. The following mutation types and features are assessed.
| What Is Analysed | What It Means |
|---|---|
| Exon deletions | Missing segments of one or more exons; the most common mutation type, seen in 70% to 80% of cases |
| Exon duplications | Extra copies of one or more exons; accounts for roughly 5% to 10% of mutations |
| Point mutations and small variants | Single-letter changes or tiny insertions and deletions in the DNA; seen in 20% to 30% of cases |
| Reading frame status | Whether the mutation disrupts the gene's reading instructions; out-of-frame shifts typically cause severe DMD, while in-frame shifts cause milder BMD |
| Carrier status in female foetuses | Whether a female foetus has inherited the mutation and may pass it to future children |
Why Is a DMD Mutation Screening (79 Exons) [Prenatal] Test Done?
This test is not triggered by physical symptoms in the mother. It is requested when a pregnancy is identified as at risk based on family or genetic history. Below are the common reasons it is recommended.
Common Indications That May Require This Test
The following situations are the most common reasons a doctor or genetic counsellor may recommend this test.
- Known carrier status confirmed in the mother through prior genetic testing
- A previously affected child diagnosed with DMD or BMD in the family
- Family history of Duchenne or Becker muscular dystrophy in a close relative
- Elevated creatine kinase levels detected in a male family member
- Positive result from earlier carrier screening
- Recommendation from a genetic counsellor following pedigree review
Conditions This Test Can Help Detect
The DMD mutation screening (79 Exons) [Prenatal] test can identify the following conditions in the foetus.
- Duchenne muscular dystrophy (DMD): a severe condition with onset between ages 3 and 5, leading to progressive muscle weakness and a significant impact on life expectancy
- Becker muscular dystrophy (BMD): a milder form with later onset and longer survival, associated with higher levels of dystrophin protein
- Carrier status in female foetuses: identifying whether a female foetus carries the mutation for future reproductive planning
DMD Mutation Screening (79 Exons) [Prenatal] Test During Pregnancy
This test is specifically designed as a prenatal diagnostic tool. It is performed on foetal material collected via chorionic villus sampling (CVS) at around 10 to 12 weeks, amniocentesis at 15 to 16 weeks, or from cord blood. Because there is currently no effective cure for DMD, prenatal diagnosis plays an important role in helping at-risk families make informed decisions during pregnancy.
How to Prepare and What to Expect
No special preparation is required before sample collection. Here is what you need to know before attending the appointment.
Do You Need to Fast?
No fasting is required for this test. You may eat and drink normally before the appointment.
Practical Tips Before Your Test
The following steps will help ensure the test proceeds smoothly.
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Carry prior genetic reports of the affected family member (proband) or any carrier testing results, as these are essential for accurate analysis
- Pre-test and post-test genetic counselling is strongly recommended to understand the implications of all possible results
- Discuss the procedural risks of CVS or amniocentesis, such as the small risk of miscarriage, with your obstetrician before the appointment
- A maternal blood sample will also be collected at the same visit for a maternal cell contamination (MCC) check
Step-by-Step Procedure
The DMD mutation screening (79 Exons) [Prenatal] test procedure involves the collection of foetal material using one of the methods below, along with a maternal blood sample.
CVS Sample Collection:
- A genetic counsellor or doctor reviews your family history and confirms the known familial mutation before the procedure.
- CVS is performed at 10 to 12 weeks of pregnancy. A small sample of placental tissue is collected under ultrasound guidance, either through the cervix or the abdomen.
- A maternal blood sample is taken at the same time for the MCC check to ensure results are not affected by maternal cells in the foetal sample.
- The CVS tissue sample is stored in a sterile container and kept refrigerated (2 to 8 degrees Celsius) before dispatch to the laboratory.
- DNA is extracted from the sample and analysed using MLPA (multiplex ligation-dependent probe amplification) to screen all 79 exons of the DMD gene.
- Results are typically ready within 15 days.
Amniocentesis Sample Collection:
- Amniocentesis is performed at around 15 to 16 weeks of pregnancy. A fine needle is inserted through the abdomen under ultrasound guidance to collect a small amount of amniotic fluid surrounding the foetus.
- A maternal blood sample is collected at the same visit for the MCC check.
- The amniotic fluid sample is stored and dispatched to the laboratory. Cells may require culturing before DNA analysis can begin, which may extend the turnaround time.
- Laboratory analysis using MLPA screens all 79 exons of the dystrophin gene for the familial mutation.
Cord Blood Sample Collection:
- Cord blood is collected at the time of delivery from the umbilical cord.
- The sample is stored and sent to the laboratory for DNA extraction and MLPA-based analysis of all 79 exons.
Factors That Can Affect Accuracy
The following factors may influence the reliability of the test result.
- Maternal cell contamination in the foetal sample, which is why the accompanying maternal blood sample is essential
- Insufficient quantity or poor quality of foetal tissue collected
- Gestational age at the time of sampling
- Whether the specific familial mutation has been identified beforehand
- Laboratory methodology used (MLPA alone versus MLPA combined with additional sequencing)
- Gonadal mosaicism in the mother, where the mutation is present in her eggs but not in her blood
Understanding Your DMD Mutation Screening (79 Exons) [Prenatal] Test Results
Results from this test are reported qualitatively, not as numerical values. Your genetic counsellor or clinical geneticist will interpret the findings in the context of your family history and the foetus's DNA profile.
| Result Category | Interpretation |
|---|---|
| No pathogenic variant detected | The foetus does not carry the known familial DMD mutation and is expected to be unaffected |
| Pathogenic variant detected (male foetus) | The foetus is expected to develop DMD or BMD, depending on whether the mutation disrupts the reading frame |
| Pathogenic variant detected (female foetus) | The foetus is a carrier; carriers typically do not develop symptoms, but may pass the mutation to their children |
| Variant of uncertain significance (VUS) | A change was found whose health impact is unclear; further genetic counselling and evaluation are needed |
Disclaimer: These categories are general guidelines. Your doctor will interpret your results based on your family's specific mutation, the foetal sex, gestational age, and other relevant factors. Always consult a qualified healthcare professional for personalised medical advice.
Results During Special Conditions
Certain situations can affect how results are generated or interpreted.
If maternal cells contaminate the foetal sample, the result may be inaccurate. This is why a maternal blood sample is always collected alongside the foetal sample. If amniotic fluid cells fail to grow during laboratory culture, testing may be delayed, or a repeat sample may be required. In cases where the mother has gonadal mosaicism, the mutation may be present in her eggs but absent in her blood, which can lead to unexpected results even without a prior family history.
How to Maintain Healthy Levels
As this is a DNA-based genetic test, lifestyle changes do not alter the result. The following steps support informed decision-making after testing.
- Attend pre-test and post-test genetic counselling sessions to fully understand what the result means for your family
- If the foetus is found to be unaffected, continue routine prenatal care as guided by your obstetrician
- If a mutation is identified, speak with your genetic counsellor and obstetrician about the available options and next steps
Lupin Diagnostics DMD Mutation Screening (79 Exons) [Prenatal] Test Price
The DMD mutation screening (79 Exons) [Prenatal] test cost at Lupin Diagnostics starts at ₹18,000. This test requires a visit to a Lupin Diagnostics centre, as home collection is not available for this test.
| City | Approximate Price (₹) |
|---|---|
| Mumbai | 18000 |
| Pune | 18000 |
| Bangalore | 18000 |
| Chennai | 18000 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Follow these steps to get a DMD mutation screening (79 Exons) [Prenatal] test online booking through Lupin Diagnostics.
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred centre location.
- Visit the centre at your scheduled time for sample collection.
- Receive your report via email or WhatsApp within 15 days.
Frequently Asked Questions
The DMD mutation screening (79 Exons) [Prenatal] test is a genetic test that analyses all 79 exons of the dystrophin gene in foetal DNA. It checks for mutations that cause Duchenne or Becker muscular dystrophy. It is performed on foetal material collected during pregnancy and is recommended only for at-risk families.
This test is for pregnant women who are confirmed carriers of a DMD gene mutation, have a previous child diagnosed with DMD or BMD, or have a close family member with either condition. It is not a routine prenatal test for all pregnancies.
Foetal DNA can be obtained from three sample types: chorionic villus (CVS) tissue collected at 10 to 12 weeks, amniotic fluid collected at 15 to 16 weeks, or cord blood collected at delivery. A maternal blood sample is also taken at the same visit for quality control.
CVS and amniocentesis are generally considered safe procedures. Both carry a small risk of miscarriage, estimated at between 0.25% and 1%. Your obstetrician will explain the specific risks relevant to your situation before the procedure.
Results are typically available within 15 days. Amniotic fluid samples may take a little longer if cells require culturing before DNA analysis can begin.
The test can identify the mutation type and whether the reading frame is disrupted. Out-of-frame mutations generally indicate a higher likelihood of severe DMD, while in-frame mutations are associated with the milder BMD. However, individual clinical outcomes can vary and should be discussed with a specialist.
A positive result should be discussed with a qualified genetic counsellor and your obstetrician. They will explain the meaning of the specific mutation found and the options available. The decision regarding the pregnancy is made by the family with full medical guidance and support.
DMD Mutation Screening (79 Exons) [Prenatal] Test: Booking, Price, and Results
