Spinal Muscular Atrophy Gene Panel Test: Booking, Price, and Results
About Spinal Muscular Atrophy Gene Panel Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | SMA Gene Panel, SMN1/SMN2 Deletion/Duplication Analysis, SMA Carrier Test, Survival Motor Neuron Gene Analysis |
| Sample Type | Amniotic fluid (Falcon tube); peripheral blood (EDTA tube) |
| Fasting Required | No fasting required |
| Report Time | 35 days |
| Recommended For | All genders and ages; individuals with suspected SMA symptoms, prospective parents for carrier screening, family members of SMA patients, prenatal testing |
| Price | Starting at ₹21,600 |
What is a Spinal Muscular Atrophy Gene Panel Test?
The Spinal Muscular Atrophy Gene Panel Test is a molecular genetic test that analyses the SMN1 and SMN2 genes to detect mutations linked to spinal muscular atrophy (SMA). SMA is a neuromuscular condition caused by the loss of motor neurons in the spinal cord, leading to progressive muscle weakness. The test uses Next Generation Sequencing (NGS) and is performed on amniotic fluid or peripheral blood samples. It may also be called the SMA Gene Panel or SMN1/SMN2 deletion analysis.
What Does a Spinal Muscular Atrophy Gene Panel Test Measure?
The Spinal Muscular Atrophy Gene Panel Test examines two closely related genes. Here are the key parameters it evaluates:
| Parameter | What it Tells You |
|---|---|
| SMN1 copy number | Determines how many functional copies of the primary SMA gene are present |
| SMN2 copy number | Counts backup gene copies; more copies are generally linked to a milder condition |
| SMN1 exon 7 deletion | Detects the most common genetic change responsible for around 95% of SMA cases |
| Intragenic variants | Identifies point mutations or small changes in SMN1 in rarer cases |
Why is a Spinal Muscular Atrophy Gene Panel Test Done?
Doctors request the Spinal Muscular Atrophy Gene Panel for diagnosis, carrier detection, and prenatal assessment. The reasons for testing vary by age and clinical situation.
Common Symptoms That May Require This Test
The following symptoms may prompt a doctor to recommend this test:
- Muscle weakness, particularly in the shoulders, hips, and thighs
- Hypotonia (abnormally low muscle tone, sometimes called "floppy baby" syndrome)
- Difficulty sitting, crawling, or walking in infants and young children
- Poor head control in newborns
- Breathing difficulties or recurrent respiratory infections
- Problems with swallowing or feeding
- Reduced foetal movement was noted during pregnancy
Conditions This Test Can Help Detect
This test can help identify the following conditions:
- Spinal muscular atrophy (SMA) types I, II, III, and IV, classified by age of onset and motor function
- Carrier status in adults with no symptoms, for reproductive planning
- Confirmation of abnormal newborn screening results
Spinal Muscular Atrophy Gene Panel Test During Pregnancy
SMA carrier screening is recommended for all women who are pregnant or planning a pregnancy, regardless of ethnicity. If both partners carry a faulty SMN1 gene, prenatal diagnosis on foetal samples (such as amniotic fluid obtained through amniocentesis) can determine whether the foetus is affected. This allows families to make informed reproductive decisions in consultation with their doctor or genetic counsellor.
How to Prepare and What to Expect
No special preparation is needed before a Spinal Muscular Atrophy Gene Panel Test. The process is straightforward, though there are a few points to keep in mind.
Do You Need to Fast?
No, fasting is not required for this test. It is a genetic test and is not affected by food or drink intake.
Practical Tips Before Your Test
Keep the following in mind before your sample is collected:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Inform your doctor if you have had a recent blood transfusion; a wait of at least 10 days after a whole blood transfusion is recommended before sample collection
- Let your doctor know if you have had a bone marrow transplant, as donor DNA in your blood may affect results
- Genetic counselling before and after testing is strongly advised, particularly when screening for carrier status or planning a pregnancy
- Ensure the sample is correctly labelled with your full name and date of birth
Step-by-Step Procedure
The Spinal Muscular Atrophy Gene Panel Test procedure involves two possible sample types, depending on the clinical situation.
For peripheral blood collection:
- You will be seated comfortably; a tourniquet will be placed around the upper arm to make the vein more visible.
- The collection site is cleaned with an antiseptic solution.
- A small blood sample (approximately 3 ml) is drawn from a vein into a lavender-top EDTA tube.
- The sample is labelled with your details and stored at the correct temperature for transport.
- It is sent to the molecular genetics laboratory for DNA extraction and NGS analysis.
For amniotic fluid collection (prenatal testing):
- A gynaecologist performs amniocentesis, guided by ultrasound, to locate the amniotic sac safely.
- A thin needle is passed through the abdomen to collect approximately 20 ml of amniotic fluid into a Falcon tube.
- The sample is clearly labelled and refrigerated (2 to 8°C) immediately after collection.
- It is dispatched to the laboratory on the same day, Monday to Saturday.
- DNA is extracted from foetal cells in the fluid and analysed using NGS to examine the SMN1 and SMN2 genes.
- Results are typically available within 35 days.
Factors That Can Affect Accuracy
The following factors can affect the reliability of results:
- Recent whole blood transfusion or bone marrow transplant
- Haematological conditions such as blood cancers
- Poor sample quality or insufficient sample volume
- Incorrect sample storage or handling during transport
- Silent carriers (individuals with two SMN1 copies on the same chromosome), which can occasionally lead to missed carrier detection
Understanding Your Spinal Muscular Atrophy Gene Panel Test Results
Results from the Spinal Muscular Atrophy Gene Panel require careful interpretation by a qualified doctor or genetic counsellor. The table below outlines general reference values.
| Parameter | Result | Interpretation |
|---|---|---|
| SMN1 copy number | 2 copies | Unaffected; low carrier risk |
| SMN1 copy number | 1 copy | Carrier status; no symptoms, but can pass the gene to children |
| SMN1 copy number | 0 copies | Consistent with the SMA diagnosis |
| SMN2 copy number | 1 to 2 copies | Associated with SMA Type I (more severe) |
| SMN2 copy number | 3 copies | Associated with SMA Type II or III |
| SMN2 copy number | 4 or more copies | Associated with SMA Type III or IV (milder) |
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 circumstances can affect how results are interpreted:
- Individuals who have recently had a blood transfusion or bone marrow transplant may show mixed DNA results, as donor DNA can be present in the sample. This may lead to inaccurate copy number counts.
- Silent carriers have both SMN1 copies located on the same chromosome. Standard copy-number testing may miss these individuals, leading to a false negative result in approximately 30% of silent carrier cases, depending on ancestry.
How to Maintain Healthy Levels
Genetic status cannot be changed through lifestyle. However, there are some practical steps to take after receiving results:
- If you are identified as a carrier, consult a genetic counsellor to understand what this means for your family planning decisions.
- If both partners are found to be carriers, ask your doctor about prenatal diagnosis options available during pregnancy.
- Stay in regular contact with a neurologist or specialist if a child has been diagnosed with SMA, as early intervention can make a difference to outcomes.
Lupin Diagnostics Spinal Muscular Atrophy Gene Panel Test Price
The Spinal Muscular Atrophy 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 to book your Spinal Muscular Atrophy Gene Panel Test online:
- 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
SMA is a genetic neuromuscular disorder caused by the absence or mutation of the SMN1 gene, leading to the loss of motor neurons in the spinal cord. This results in progressive muscle weakness and loss of movement. It is inherited in an autosomal recessive pattern, meaning a child must inherit a faulty gene copy from both parents to be affected.
This test is recommended for infants or children showing signs of muscle weakness or hypotonia, couples planning pregnancy or already pregnant, family members of someone diagnosed with SMA, and newborns with abnormal results on newborn screening programmes.
No fasting or special dietary preparation is required. However, you must bring a detailed clinical history, and you should inform your doctor of any recent blood transfusion or bone marrow transplant before the test is done.
Results for the Spinal Muscular Atrophy Gene Panel Test are typically available within 35 days from the date of sample collection at Lupin Diagnostics. This is because the test uses NGS, which is a detailed sequencing method that takes time to process accurately.
Zero copies of the SMN1 gene strongly suggest a diagnosis of SMA, as this pattern accounts for approximately 95% of confirmed SMA cases. The SMN2 copy number will also be assessed to help predict the likely severity of the condition. A genetic counsellor or specialist will guide you through the next steps.
Yes. The Spinal Muscular Atrophy Gene Panel Test can be performed prenatally using amniotic fluid collected via amniocentesis. This is an option when both parents are known carriers and wish to determine whether the foetus is affected. The procedure is performed by a trained gynaecologist with ultrasound guidance.
Yes. This is a one-time genetic test. Because your DNA does not change, there is no need to repeat it once a clear result has been obtained. It is used for diagnosis or carrier screening, not for ongoing monitoring of the condition.
Spinal Muscular Atrophy Gene Panel Test: Booking, Price, and Results
