DMD/BMD-79 Exons Deletion/Duplication Analysis Test: Booking, Price, and Results
About DMD/BMD-79 Exons Deletion/Duplication Analysis Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | DMD Gene Deletion/Duplication Analysis by MLPA, Dystrophin Gene MLPA Test, Duchenne/Becker Muscular Dystrophy Genetic Test, DMD Del/Dup MLPA |
| Sample Type | Chorionic Villus (CVS), Amniotic Fluid, Cord Blood, Peripheral Blood |
| Fasting Required | No |
| Report Time | 20 days |
| Recommended For | Males and females of all ages; primarily males with suspected muscular dystrophy and females for carrier testing |
| Price | Starting at ₹8,400 |
What is a DMD/BMD-79 Exons Deletion/Duplication Analysis Test?
The DMD/BMD-79 exons deletion/duplication analysis test is a molecular genetic test that examines the dystrophin gene for missing or extra segments. It uses a laboratory method called MLPA (Multiplex Ligation-dependent Probe Amplification) to check all 79 exons (the coding sections of the gene) for copy number changes. Doctors order this test to confirm or rule out Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD). It is also known as the Dystrophin Gene MLPA Test or DMD Del/Dup MLPA.
What Does a DMD/BMD-79 Exons Deletion/Duplication Analysis Test Measure?
This test analyses DNA structure rather than measuring a substance in the blood. The following table summarises what the DMD/BMD-79 exons deletion/duplication analysis test procedure assesses.
| What Is Analysed | Why It Matters |
|---|---|
| Exon deletions in the DMD gene | Identifies missing exons; accounts for roughly 70% of DMD/BMD cases |
| Exon duplications in the DMD gene | Identifies extra copies of exons; accounts for roughly 20% of cases |
| Reading frame prediction | Helps distinguish the more severe DMD from the milder BMD based on mutation type |
| Female carrier status | Detects a single copy of a deletion or duplication in females who carry the mutation |
Why is a DMD/BMD-79 Exons Deletion/Duplication Analysis Test Done?
This test is ordered when there is a clinical reason to suspect a dystrophin gene abnormality. A doctor may recommend the DMD/BMD-79 exons deletion/duplication analysis test for diagnostic confirmation or carrier identification.
Common Symptoms That May Require This Test
The following symptoms are among the most common reasons a doctor may request this test.
- Progressive muscle weakness, particularly in the legs and hips
- Difficulty climbing stairs or rising from the floor
- Frequent falls in young children
- Waddling gait or toe-walking
- Noticeable enlargement of the calf muscles (pseudohypertrophy)
- Markedly elevated serum creatine kinase (CK) levels on a blood test
- Delayed motor milestones in young boys
Conditions This Test Can Help Detect
This test can help identify the following conditions.
- Duchenne muscular dystrophy (DMD): a severe form with muscle weakness starting before age 5, rapid progression, and loss of walking ability in early adolescence
- Becker muscular dystrophy (BMD): a milder form with a later onset, slower progression, and patients often remaining mobile into their thirties
- DMD-associated dilated cardiomyopathy: a heart muscle condition linked to the same gene, seen in some affected males and female carriers
- Carrier status in at-risk female relatives
How to Prepare and What to Expect
The DMD/BMD-79 exons deletion/duplication analysis test procedure involves collecting one or more biological samples. No special dietary preparation is needed.
Do You Need to Fast?
No fasting is required before this test. There are no dietary or fluid restrictions.
Practical Tips Before Your Test
The following steps will help ensure a smooth and accurate sample collection.
- Bring a detailed clinical history record, including symptoms, previous test results (such as serum CK levels or EMG reports), and family history, as this is required for the test
- Inform the doctor about any recent blood transfusions, as donor DNA may affect results
- Genetic counselling before and after the test is strongly recommended to understand the implications of the results
- No changes to medications are needed before sample collection
- Wear clothing that allows easy access to the arm for a blood draw if peripheral blood is being collected
Step-by-Step Procedure
Multiple sample types may be collected depending on the clinical situation. Below is the collection procedure for each sample type used in this test.
Peripheral Blood
- A trained phlebotomist cleans the skin over a vein in the arm and inserts a small needle.
- A small blood sample is drawn into a sterile collection tube.
- The tube is labelled with your details and prepared for dispatch.
- The sample is transported under refrigerated conditions to the specialised molecular genetics laboratory.
- DNA is extracted from the sample, and MLPA analysis is performed across all 79 exons of the dystrophin gene.
- A clinical geneticist or molecular pathologist reviews the findings and prepares an interpretive report.
Chorionic Villus (CVS), Amniotic Fluid, or Cord Blood
- These samples are collected by a specialist (obstetrician or foetal medicine expert) in a clinical setting using the appropriate procedure for each sample type.
- The collected sample is placed in a sterile container and labelled immediately.
- Transportation to the laboratory must happen without delay, as immediate transit is required.
- DNA is extracted, and MLPA analysis is carried out on all 79 exons of the dystrophin gene.
- The laboratory issues a full interpretive report within 20 days of sample receipt.
Factors That Can Affect Accuracy
- Recent blood transfusion (introduces donor DNA into the sample)
- Very low-level mosaicism (a condition where only some cells carry the mutation) may not be detected
- Rare natural DNA variations at probe binding sites can occasionally produce misleading results for individual exons
- Results should always be read alongside clinical findings, family history, and other investigations
Understanding Your DMD/BMD-79 Exons Deletion/Duplication Analysis Test Results
This is a qualitative genetic test, so results are not reported as numbers. The table below explains the possible result categories.
| Result Category | Interpretation |
|---|---|
| No deletion or duplication detected | All 79 exons are present in the expected copy number; large deletions/duplications are absent |
| Deletion detected | One or more exons are missing; the report specifies which exons are affected |
| Duplication detected | One or more exons are present in extra copies; the report specifies the affected exons |
| Female carrier status | A single copy of a deletion or duplication is identified in a female, consistent with carrier status |
A negative result does not completely rule out DMD or BMD, as roughly 10 to 20% of cases are caused by point mutations and other small variants that this test cannot detect. If no deletion or duplication is found but clinical suspicion remains, a doctor may recommend further testing, such as full gene sequencing.
Disclaimer: 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
Certain situations can affect how results are read.
Somatic mosaicism, where only a proportion of cells carry the mutation, may cause the test to miss a deletion or duplication. If the result does not match the clinical picture, additional testing should be considered.
Rare DNA variations at probe binding sites can occasionally produce a false signal for a single exon. Any apparent single-exon deletion should be confirmed using an independent method before a clinical decision is made.
How to Maintain Healthy Levels
Because this is a genetic test rather than a chemistry test, "healthy levels" refers to informed family planning and early action. The tips below are general wellness and awareness suggestions.
- Families with a confirmed DMD gene mutation should seek genetic counselling to understand inheritance patterns, reproductive options, and available support resources.
- Female relatives in affected families may consider carrier testing to understand their own risk.
- If a child shows early signs such as delayed walking, frequent falls, or difficulty running, seeking a medical evaluation promptly allows for timely care planning.
Lupin Diagnostics DMD/BMD-79 Exons Deletion/Duplication Analysis Test Price
The DMD/BMD-79 exons deletion/duplication analysis test cost at Lupin Diagnostics starts at ₹8,400. This test requires a visit to a Lupin Diagnostics centre or is arranged through a specialist referral; home collection is not available for this test.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 8400 |
| CHENNAI | 8400 |
| HYDERABAD | 8400 |
| KOLKATA | 8400 |
| NAVI MUMBAI | 8400 |
| PUNE | 8400 |
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 your DMD/BMD-79 exons deletion/duplication analysis test online booking.
- 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 20 days.
Frequently Asked Questions
The DMD/BMD-79 exons deletion/duplication analysis test is a molecular genetic test that uses MLPA to screen all 79 exons of the dystrophin gene for missing or extra copies. It is the recommended first step for confirming or ruling out Duchenne or Becker muscular dystrophy.
This test is recommended for boys showing signs of progressive muscle weakness (especially before age 6), individuals with markedly raised serum creatine kinase (CK) levels, female relatives of DMD or BMD patients seeking carrier status, and pregnancies at known genetic risk where prenatal diagnosis is needed.
Depending on the clinical situation, the samples used may include peripheral blood, chorionic villus (CVS), amniotic fluid, or cord blood. A specialist will advise which sample is appropriate for your case.
No fasting or dietary changes are needed. You should bring a detailed clinical history record, including previous test results and family history, as this is required. Inform your doctor about any recent blood transfusions before the test.
The report is available within 20 days of sample receipt. This turnaround time reflects the specialised nature of the molecular analysis involved.
No. This test detects large deletions and duplications, which account for around 70 to 90% of DMD and BMD cases. It does not detect point mutations, small insertions or deletions, or complex structural rearrangements. If results are negative but symptoms persist, a doctor may recommend additional gene sequencing.
A female who tests positive as a carrier typically has no or mild symptoms but carries one copy of the mutation. She has a 50% chance of passing the mutation to each child. Genetic counselling is strongly advised to understand the implications for the family.
DMD/BMD-79 Exons Deletion/Duplication Analysis Test: Booking, Price, and Results
