Congenital Myopathy Gene Panel Test: Booking, Price, and Results
About Congenital Myopathy Gene Panel Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | CM Gene Panel, Congenital Myopathy NGS Panel, Neuromuscular Gene Panel |
| Sample Type | Peripheral blood (EDTA tube), Chorionic Villus (CVS), or Amniotic Fluid |
| Fasting Required | No |
| Report Time | 35 days |
| Recommended For | Infants, children, and adults of any gender with suspected congenital myopathy |
| Price | Starting at ₹21,600 |
What is a Congenital Myopathy Gene Panel Test?
The Congenital Myopathy Gene Panel Test is a genetic test that examines multiple genes at once to identify inherited mutations linked to muscle disorders present from birth or early childhood. It uses next-generation sequencing (NGS), a technology that reads many genes simultaneously. The test is also known as the CM Gene Panel or Congenital Myopathy NGS Panel. Samples collected may include peripheral blood, chorionic villus (CVS), or amniotic fluid, depending on clinical need.
What Does a Congenital Myopathy Gene Panel Test Measure?
This test analyses the DNA sequence of genes associated with congenital myopathies, a group of inherited muscle conditions that vary widely in severity. Below are key genes typically included in the panel.
| Gene | What it Does | Associated Condition |
|---|---|---|
| RYR1 | Encodes a calcium channel essential for muscle contraction | The most common gene mutated in congenital myopathy; also linked to central core disease |
| ACTA1 | Encodes skeletal muscle actin, a structural protein | Nemaline myopathy |
| NEB | Encodes nebulin, which helps regulate muscle fibre structure | Nemaline myopathy |
| MTM1 | Encodes myotubularin, involved in muscle cell development | X-linked myotubular myopathy |
| BIN1, DNM2 | Involved in muscle cell nucleus positioning | Centronuclear myopathy |
| MYH7 | Encodes a myosin protein in muscle fibres | Myosin storage myopathy |
| SELENON | Involved in muscle development and calcium regulation | Rigid spine muscular dystrophy; congenital fibre-type disproportion |
Panels typically cover 36 to 61 genes in total, including CACNA1S, CAV3, CFL2, LAMA2, TPM2, TPM3, and TTN, among others.
Why is a Congenital Myopathy Gene Panel Test Done?
This test is ordered when a doctor suspects a genetic cause of muscle weakness or abnormal muscle tone. It helps confirm a diagnosis and guides further clinical management.
Common Symptoms That May Require This Test
The following symptoms are among the most common reasons a doctor may request this test.
- Low muscle tone at birth (sometimes called a "floppy baby")
- Delayed motor milestones, such as late sitting, standing, or walking
- Unexplained muscle weakness in the arms or legs
- Feeding difficulties in infants
- Drooping eyelids (ptosis) or weakness of the eye muscles
- Facial muscle involvement or reduced facial expression
- Breathing difficulties related to weak respiratory muscles
Conditions This Test Can Help Detect
This test can help identify several inherited muscle conditions. These include:
- Nemaline myopathy
- Core myopathy (including central core disease and multi-minicore disease)
- Centronuclear myopathy
- Myosin storage myopathy
- Congenital fibre-type disproportion
- X-linked myotubular myopathy
- Certain subtypes of limb-girdle muscular dystrophy
- Malignant hyperthermia susceptibility (a serious reaction to specific anaesthetic agents), particularly linked to RYR1 mutations
How to Prepare and What to Expect
Preparation for this test is straightforward. No special dietary restrictions are needed, but there are a few important steps to follow before your appointment.
Do You Need to Fast?
No fasting is required before this test. You may eat and drink normally on the day of your appointment.
Practical Tips Before Your Test
Here are some steps to 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.
- Carry any previous muscle biopsy reports or EMG (electromyography, a test that measures electrical activity in muscles) results to your appointment.
- Inform your doctor if the patient has recently had a blood transfusion or bone marrow transplant, as this may affect the sample.
- Genetic counselling before testing is strongly recommended to understand what the test involves and what the results may mean.
- Consult a neurologist or clinical geneticist who will guide the testing process and referral.
Step-by-Step Procedure
The Congenital Myopathy Gene Panel Test procedure involves collecting one or more sample types depending on clinical need. Below are the collection steps for each sample.
Peripheral Blood Collection
- A healthcare professional cleans the skin over a vein in the arm.
- A small blood sample (approximately 3 ml) is drawn into a lavender-top EDTA tube.
- The tube is labelled and stored at the correct temperature for transport.
Chorionic Villus (CVS) Collection
- This sample is collected by a specialist during a clinical procedure, typically between 10 and 13 weeks of pregnancy.
- A small amount of placental tissue (approximately 30 mg) is collected using a fine needle or catheter.
- The sample is placed in a sterile container and refrigerated at 2 to 8 degrees Celsius for transport.
Amniotic Fluid Collection
- A specialist performs amniocentesis, typically between 15 and 20 weeks of pregnancy.
- Approximately 20 ml of amniotic fluid is collected using a fine needle guided by ultrasound.
- The fluid is placed in a dedicated Falcon tube and kept refrigerated for transport.
Once any sample is received at the laboratory, DNA is extracted and analysed using NGS technology. Clinical geneticists interpret results.
Factors That Can Affect Accuracy
Certain factors may affect the quality or interpretation of results.
- Recent blood transfusions or bone marrow transplants can introduce DNA from another person.
- Mutations in non-coding regions of genes (regions outside the main coding sequence) will not be detected.
- Variants in areas of high genetic similarity or repetitive sequences may be difficult to read accurately.
- An incomplete or missing clinical history may affect the interpretation.
Understanding Your Congenital Myopathy Gene Panel Test Results
Results from this test are qualitative, meaning they indicate whether a disease-causing variant was found, not a numerical value. Your doctor will review results alongside your clinical symptoms, family history, and other investigations.
| Result Category | Meaning |
|---|---|
| Positive / Pathogenic variant | A disease-causing mutation has been identified in one of the tested genes |
| Likely pathogenic | A variant has been found that probably causes disease, but confirmation may be needed |
| Variant of Uncertain Significance (VUS) | A genetic change was found, but its clinical meaning is currently unclear |
| Negative | No disease-causing mutation was found in the genes covered by this panel |
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.
How to Maintain Healthy Levels
As this is a genetic test, results do not change over time. However, the following general steps can support long-term muscle health and quality of life.
- Work with a multidisciplinary team, including a neurologist, physiotherapist, and respiratory specialist, to manage symptoms effectively.
- Regular physiotherapy, as advised by your care team, may help preserve muscle function and mobility.
- Genetic counselling is valuable for understanding implications for other family members and for family planning decisions.
Lupin Diagnostics Congenital Myopathy Gene Panel Test Price
The Congenital Myopathy Gene Panel Test cost at Lupin Diagnostics starts at ₹21,600. This test requires a visit to a Lupin Diagnostics centre; home collection is not available for this test.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 21600 |
| CHENNAI | 21600 |
| HYDERABAD | 21600 |
| KOLKATA | 21600 |
| NAVI MUMBAI | 21600 |
| PUNE | 21600 |
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 for the Congenital Myopathy Gene Panel 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 the stipulated turnaround time.
Frequently Asked Questions
It is a genetic test that analyses many genes at once using next-generation sequencing to look for inherited mutations that cause muscle disorders present from birth. The Congenital Myopathy Gene Panel Test can help confirm a diagnosis, guide treatment planning, and support family counselling.
This test is suitable for infants with low muscle tone, children who have missed motor milestones, or individuals with unexplained muscle weakness and a family history of muscle disease. A neurologist or geneticist typically recommends it based on clinical symptoms.
For most patients, a small blood sample is drawn from a vein in the arm. In prenatal cases, the sample may be chorionic villus tissue or amniotic fluid, collected by a specialist under medical supervision.
At Lupin Diagnostics, the report is typically delivered within 35 days. This extended turnaround time reflects the complexity of analysing a large number of genes using NGS technology.
No. A negative result means no disease-causing variant was found in the genes covered by this panel. Some mutations may be in genes not included in the panel or in non-coding regions that standard sequencing cannot detect. Your doctor will consider all clinical findings together.
A VUS means a genetic change was identified, but current evidence is insufficient to confirm whether it causes disease. Your doctor may recommend testing other family members or periodic review as scientific knowledge of that variant develops.
Genetic counselling is strongly recommended both before and after testing. A genetic counsellor can explain what the test covers, help you understand the results, and discuss what findings may mean for other family members and future family planning.
Congenital Myopathy Gene Panel Test: Booking, Price, and Results
