Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel Test: Booking, Price, and Results
About Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | AMC-CMS Gene Panel, Arthrogryposis Multiplex Congenita Gene Panel, Congenital Myasthenic Syndrome NGS Panel |
| Sample Type | Chorionic Villus (CVS), Amniotic Fluid, or Peripheral Blood (EDTA) |
| Fasting Required | No |
| Report Time | 35 days |
| Recommended For | Infants, children, and adults with suspected arthrogryposis or congenital myasthenic syndrome; all genders |
| Price | Starting at ₹21,600 |
What is an Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel Test?
The Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel Test is a specialised genetic test that analyses multiple genes linked to arthrogryposis (a condition causing joint stiffness and contractures from birth) and congenital myasthenic syndrome (a group of inherited neuromuscular disorders causing muscle weakness). It uses next-generation sequencing (NGS), a technology that reads large sections of DNA accurately and efficiently. The test is also known as the AMC-CMS Gene Panel or Congenital Myasthenic Syndrome NGS Panel.
What Does an Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel Test Measure?
This test examines specific genes to detect variants (changes in the DNA sequence) that may cause or contribute to these conditions. The genes analysed include those responsible for neuromuscular junction function (the point where nerves communicate with muscles) and joint development.
The key genes covered in this panel include:
| Gene(s) | Role |
|---|---|
| CHRNA1, CHRNB1, CHRND, CHRNE | Encode acetylcholine receptor subunits at the nerve-muscle connection point |
| COLQ | Encodes an enzyme that breaks down nerve-signalling chemicals |
| AGRN, MUSK, DOK7, RAPSN | Involved in forming and maintaining the nerve-muscle junction |
| CHAT | Produces the enzyme that makes acetylcholine, a key nerve signalling chemical |
| GFPT1, DPAGT1, ALG2, ALG14 | Involved in attaching sugar molecules to proteins; faults can cause myasthenic syndromes |
| SCN4A | Encodes a sodium channel in muscle tissue |
| PIEZO2, MYH3, TNNI2, TNNT3 | Associated with distal arthrogryposis (joint contractures in the hands and feet) |
Why is an Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel Test Done?
A doctor may recommend this test when a patient's symptoms suggest an inherited neuromuscular or joint condition. The test helps identify the specific genetic cause.
Common Symptoms That May Require This Test
The following symptoms are among the most common reasons a doctor may request this test:
- Muscle weakness that worsens with activity (fatigable weakness)
- Multiple joint stiffness or contractures present at birth
- Drooping eyelids (ptosis) or difficulty moving the eyes
- Difficulty chewing, swallowing, or feeding in infants
- Breathing difficulties or pauses in breathing (apnoea) in newborns
- Facial weakness or reduced facial expression
- Bluish skin colouration (cyanosis) in neonates
Conditions This Test Can Help Detect
This test can help identify a range of inherited conditions, including:
- Congenital myasthenic syndrome (CMS), a group of neuromuscular conditions causing fatigable muscle weakness
- Arthrogryposis multiplex congenita (AMC), characterised by multiple joint contractures present at birth
- Distal arthrogryposis syndromes, involving contractures mainly in the hands and feet
- Multiple pterygium syndrome, where skin webbing develops across joints
- Fetal akinesia deformation sequence, caused by reduced fetal movement during development
How to Prepare and What to Expect
Preparing for this Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel Test is straightforward. The most important step is bringing the correct documentation and attending a Lupin Diagnostics centre for sample collection.
Do You Need to Fast?
No, fasting is not required. This test analyses DNA, which is not affected by food or drink consumed before the test.
Practical Tips Before Your Test
Here are a few practical steps to help your visit 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 healthcare professional about all current medications
- Wear comfortable clothing with easy access to the arm for blood collection
- If the sample type is CVS or amniotic fluid, your doctor will advise specific preparation for the procedure
- Genetic counselling before and after testing is strongly recommended to help interpret results
Step-by-Step Procedure
Sample collection for this test may involve one or more of the following sample types. The method used will be decided by your doctor.
For peripheral blood:
- A healthcare professional verifies your identity and reviews your clinical history
- A small blood sample (3 ml) is drawn from a vein in your arm into a lavender-top EDTA tube
- The sample is labelled and stored under refrigerated conditions (2 to 8 degrees Celsius) before dispatch
- The sample is sent to the laboratory, where DNA is extracted and prepared for sequencing
- Next-generation sequencing (NGS) is performed across all relevant genes
- Geneticists analyse the results and generate an interpretive report, delivered within 35 days
For chorionic villus (CVS) or amniotic fluid:
- The procedure is performed by a trained specialist under clinical supervision
- A CVS sample (30 mg) is collected in a sterile container, or 20 ml of amniotic fluid is collected in a Falcon tube
- Samples are refrigerated at 2 to 8 degrees Celsius and dispatched promptly to the laboratory
- DNA is extracted, and NGS analysis is performed
- Results are reviewed by a geneticist and returned within 35 days
Factors That Can Affect Accuracy
The following factors may influence the quality or interpretation of results:
- Poor sample quality or insufficient DNA yield
- A recent blood transfusion, which may affect DNA analysis from blood samples
- Certain blood or bone marrow conditions that alter the DNA present in the sample
- Regions of genes with repetitive sequences, which can be difficult to sequence accurately
Understanding Your Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel Test Results
Results from this test are classified according to international guidelines from the American College of Medical Genetics and Genomics (ACMG). A qualified geneticist will interpret your report in the context of your clinical presentation and family history.
| Variant Classification | Meaning |
|---|---|
| Pathogenic variant: Not detected | No disease-causing change identified in the genes tested |
| Likely pathogenic variant: Not detected | No probable disease-causing change identified |
| Variant of Uncertain Significance (VUS): May be detected | A change found, but the evidence is insufficient to confirm or exclude disease relevance |
| Likely benign variant: May be detected | A change identified, probably harmless |
| Benign variant: May be detected | A change identified, considered harmless |
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
Because this test detects inherited genetic conditions, lifestyle changes cannot alter the results. However, the following steps support overall well-being after testing:
- Attend genetic counselling sessions to understand what your results mean for you and your family
- Seek early specialist review if a pathogenic variant is identified, as some CMS subtypes have specific treatment options
- Share your results with relevant family members, as inherited variants may affect other relatives
Lupin Diagnostics Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel Test Price
The Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel Test is priced starting at ₹21,600 at Lupin Diagnostics. This is a super specialised genetic test that 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
Booking your Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel Test online is simple:
- 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 35 days.
Frequently Asked Questions
The Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel Test is a genetic test that analyses multiple genes using next-generation sequencing (NGS) technology. It helps identify disease-causing DNA variants linked to inherited neuromuscular and joint conditions present from birth.
This test is recommended for infants, children, or adults with clinical features suggesting congenital myasthenic syndrome or arthrogryposis. These include muscle weakness present from birth, joint contractures, feeding difficulties, drooping eyelids, or breathing problems in newborns. A specialist or geneticist will advise whether the test is appropriate.
No fasting is required. The Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel Test procedure analyses DNA, which remains unchanged regardless of food or drink intake before the test.
A detailed clinical history helps the laboratory team and geneticist interpret results accurately. The genes analysed cover a wide range of conditions with overlapping symptoms. Knowing the patient's clinical features, family history, and previous findings ensures that variants are classified correctly and results are meaningful.
A VUS is a genetic change identified during the test for which there is currently not enough scientific evidence to determine whether it causes disease. A VUS result cannot be used to change clinical management on its own. The variant may be re-evaluated in the future as more data becomes available.
Results are delivered within 35 days from the date the sample is received by the laboratory. This timeframe reflects the detailed analysis required for NGS-based genetic testing.
No. This test requires sample collection by a trained healthcare professional at a Lupin Diagnostics centre. The samples involved, including blood, CVS, or amniotic fluid, must be collected and handled under specific clinical conditions to maintain quality. Please visit your nearest centre to book your Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel Test.
Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel Test: Booking, Price, and Results
