Duchenne Muscular Dystrophy (DMD) by NGS Test: Booking, Price, and Results
About Duchenne Muscular Dystrophy (DMD) by NGS Test
| Field | Value |
|---|---|
| Also Known As | DMD Gene Analysis by NGS, Dystrophin gene sequencing, DMD full gene analysis, Dystrophinopathy testing |
| Sample Type | Whole Blood (EDTA tube) |
| Fasting Required | No fasting required |
| Report Time | 25 Days |
| Recommended For | Primarily males with suspected muscular dystrophy; females for carrier testing |
| Price | Starting at ₹22,000 |
What is Duchenne Muscular Dystrophy (DMD) by NGS?
The Duchenne Muscular Dystrophy (DMD) by NGS test analyses the DMD gene using next-generation sequencing (NGS), a technology that reads the complete genetic code of a specific gene in one run. It is used to confirm or rule out Duchenne muscular dystrophy, Becker muscular dystrophy, and related conditions caused by changes in this gene. Doctors prescribe it for boys showing signs of muscle weakness and for female relatives who may carry the gene change. A small blood sample collected in an EDTA tube is all that is needed.
What Does a Duchenne Muscular Dystrophy (DMD) by NGS Measure?
The DMD test examines the DMD gene for several types of changes that stop the body from making dystrophin, a protein that keeps muscle fibres stable. The table below summarises what the test looks for.
| What is Analysed | Why it Matters |
|---|---|
| Large deletions in the DMD gene | Accounts for roughly 70% of all cases; removing sections of the gene disrupts dystrophin production |
| Large duplications in the DMD gene | Account for roughly 20% of cases; extra gene copies also impair normal protein function |
| Small mutations (missense, nonsense, splice-site) | Less common changes that alter or stop the dystrophin protein at a molecular level |
| Copy number variants (CNVs) | Structural changes in the number of gene copies that affect how much dystrophin is produced |
Why is a Duchenne Muscular Dystrophy (DMD) Test Done by NGS?
A doctor may order this test when a patient's symptoms point towards a muscle disorder caused by a genetic change in the DMD gene.
Common Symptoms That May Require This Test
The following symptoms are typical reasons a clinician may request a DMD by NGS test:
- Progressive muscle weakness, starting in the legs and pelvis
- Frequent falls or difficulty getting up from the floor
- Delayed motor milestones, such as late walking or difficulty running and jumping
- A waddling walk or toe walking
- Noticeably enlarged calf muscles
- Inward curve of the lower spine (lumbar lordosis)
- Elevated creatine kinase (CK) levels found on a routine blood test
Conditions This Test Can Help Detect
The test can help identify the following conditions:
- Duchenne muscular dystrophy (DMD), a severe form with onset before age 5
- Becker muscular dystrophy (BMD), a milder form with a later onset and slower progression
- DMD-associated dilated cardiomyopathy, where the heart muscle becomes weakened
- Female carrier status for the DMD gene mutation
How to Prepare and What to Expect
No special preparation is needed for this test, but a few simple steps will help ensure your sample is collected correctly.
Do You Need to Fast?
No fasting is required before the Duchenne Muscular Dystrophy (DMD) by NGS test. You may eat and drink normally before sample collection. No dietary restrictions apply.
Practical Tips Before Your Test
The following tips will help your appointment go smoothly:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test.
- Inform the laboratory of any recent blood transfusions or bone marrow transplants, as these may affect the result.
- Bring any previous genetic test reports or relevant family medical records.
- Consider genetic counselling before the test so you understand what the results may mean for you and your family.
- Wear clothing with easy access to your arm for a straightforward blood draw.
Step-by-Step Procedure
Here is what happens during sample collection for the DMD test procedure:
- A trained phlebotomist cleans the inside of your elbow or another suitable area with an antiseptic wipe.
- A small amount of blood, approximately 2 ml, is drawn from a vein using a fine needle into an EDTA tube (lavender-top tube).
- The needle is removed, and gentle pressure is applied. The process takes only a few minutes.
- The tube is labelled with your details and stored at the correct refrigerated temperature (2 to 8 degrees Celsius) to preserve sample quality.
- The sample is dispatched to the laboratory, where it undergoes next-generation sequencing of the full DMD gene, including coding regions and splicing junctions.
- Qualified genetic specialists review the sequencing data and prepare your report, which is delivered within 25 days.
Factors That Can Affect Accuracy
Certain situations can occasionally affect the reliability of the result:
- Recent blood transfusion or bone marrow transplant (may introduce donor DNA)
- Mosaicism, where the gene change is present in only some cells of the body
- Mislabelled or poorly stored samples
- Rare genetic variants not covered by the current test design
- Pseudogene interference, where a look-alike gene region creates a confounding signal
Understanding Your Duchenne Muscular Dystrophy (DMD) by NGS Results
Results from this test are qualitative, meaning they describe whether a disease-causing change was found rather than providing a numerical measurement. Always review your report with a doctor or genetic counsellor who can place findings in the context of your clinical picture.
| Result Category | Meaning |
|---|---|
| No pathogenic variant detected | No disease-causing DMD gene change identified in this analysis |
| Pathogenic or likely pathogenic variant | A confirmed disease-causing mutation is present in the DMD gene |
| Variant of uncertain significance (VUS) | A change was found, but its clinical impact is not yet clear; further testing may be needed |
| Likely benign or benign variant | A gene change was detected but not considered disease-causing based on current evidence |
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
Female carriers of a DMD gene mutation usually do not develop severe muscle disease, but a proportion of carrier females do experience mild muscle weakness or cramping. These symptoms are typically far less severe than those seen in affected males. In rare cases, a female carrier may develop heart involvement. If you are a female with a positive carrier result, your doctor will advise on appropriate follow-up.
Mosaicism, where the mutation is present in only some cells, may reduce detection sensitivity and occasionally lead to inconclusive findings.
How to Maintain Healthy Levels
Because this is a genetic test, results do not change over time. The following tips apply after a diagnosis is confirmed:
- Engage with a multidisciplinary team including neurologists, cardiologists, and physiotherapists for structured care.
- Physical therapy and appropriate movement, as guided by a specialist, may help preserve muscle function for longer.
- Stay consistent with scheduled medical reviews so that any changes in muscle or heart function are identified early.
Lupin Diagnostics Duchenne Muscular Dystrophy (DMD) by NGS Price and Home Collection
The DMD test cost at Lupin Diagnostics starts at ₹22,000, and home sample collection is available across major cities. The city-wise indicative breakdown is listed below.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 22000 |
| CHENNAI | 22000 |
| HYDERABAD | 22000 |
| KOLKATA | 22000 |
| NAVI MUMBAI | 22000 |
| PUNE | 22000 |
Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
- Select the Duchenne Muscular Dystrophy (DMD) by NGS 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 25 days.
Home Collection
DMD test home collection is available across cities through Lupin Diagnostics' network of certified phlebotomists. All samples are processed in NABL-accredited laboratories, ensuring accurate and reliable results. Your digital report is shared securely via email or WhatsApp once ready.
Frequently Asked Questions
Duchenne Muscular Dystrophy is a genetic condition that causes progressive weakening of the skeletal muscles and heart muscle. It is caused by changes in the DMD gene that prevent the body from making a functional form of dystrophin, a protein that muscles need to stay stable. It primarily affects boys and usually becomes apparent before the age of 5.
Older methods, such as MLPA, can detect the large deletions and duplications that account for around 90% of cases, but they miss the remaining 10% caused by small mutations. The Duchenne Muscular Dystrophy (DMD) by NGS test analyses the entire gene in a single run, covering all known mutation types and providing a more complete picture.
This test is suitable for boys or men showing clinical signs of muscle weakness that may suggest a dystrophinopathy, individuals with a family history of DMD or Becker muscular dystrophy, and females who may be carriers of a DMD gene change. A doctor or genetic counsellor will advise whether this test is appropriate for your specific situation.
A small blood sample of 2 ml is drawn from a vein in the arm into a lavender-top EDTA tube. The process takes only a few minutes and is no different from a routine blood test. The sample is then refrigerated and sent to the laboratory for DMD test analysis by NGS.
Next-generation sequencing is a detailed process. The laboratory sequences the entire DMD gene, checks for all mutation types, and then has qualified genetic specialists review the data carefully before issuing a report. This thorough analysis is why the DMD test turnaround time is longer than routine blood tests.
Most females who carry one copy of a DMD gene change do not develop muscular dystrophy. However, a proportion of carrier females may experience mild muscle weakness or cramping, and some may have heart involvement. The DMD by NGS test can identify carrier status in females, which is important for family planning and health monitoring.
Genetic counselling is strongly recommended before and after the Duchenne Muscular Dystrophy (DMD) by NGS test. A genetic counsellor can help you understand what the test covers, what a positive or uncertain result would mean for you and your family, and what steps may follow depending on the outcome.
Duchenne Muscular Dystrophy (DMD) by NGS Test: Booking, Price, and Results
