Ataxia Gene Panel Test: Booking, Price, and Results
About Ataxia Gene Panel Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | Ataxia NGS Panel, Hereditary Ataxia Gene Panel, Spinocerebellar Ataxia (SCA) Gene Panel, Inherited Ataxia Gene Panel |
| Sample Type | Peripheral blood (EDTA tube); amniotic fluid; chorionic villus sample (CVS) |
| Fasting Required | No fasting required |
| Report Time | 15 days |
| Recommended For | All genders and ages; individuals with suspected hereditary ataxia or a family history of ataxia |
| Price | Starting at ₹14,400 |
What is an Ataxia Gene Panel Test?
The Ataxia Gene Panel Test is a genetic test that analyses hundreds of genes linked to hereditary ataxia, a group of neurological disorders that affect coordination, balance, and speech. A blood sample is collected and examined for DNA changes that may cause different types of inherited ataxia. This test is also known as the Hereditary Ataxia Gene Panel or Spinocerebellar Ataxia (SCA) Gene Panel. Doctors prescribe it when a patient shows symptoms of ataxia or has a family history of the condition.
What Does an Ataxia Gene Panel Test Measure?
The Ataxia Gene Panel Test analyses a wide range of genes associated with hereditary ataxia. It looks for different types of DNA changes that can disrupt normal neurological function.
The test examines the following:
| Component | What it Looks For |
|---|---|
| Single nucleotide variants | Small DNA changes in ataxia-related genes |
| Copy number variants | Deletions or duplications of genetic material |
| CAG repeat expansions | Abnormal repetitions in genes such as ATXN1, ATXN2, ATXN3, CACNA1A, and ATXN7, linked to SCA types 1, 2, 3, 6, and 7 |
| Mitochondrial genome | Variants in maternally inherited mitochondrial DNA |
The panel covers more than 400 genes, including ABCA1, ACO2, AFG3L2, ANO10, APTX, ATM, ATP13A2, CACNA1A, DNMT1, FXN, KCNA1, POLG, PRKCG, SACS, SETX, SYNE1, TTR, and many others associated with inherited ataxia syndromes.
Why is an Ataxia Gene Panel Test Done?
An Ataxia Gene Panel Test is ordered when a doctor suspects a hereditary cause for a patient's neurological symptoms. Below is a summary of the common reasons.
Common Symptoms That May Require This Test
The following symptoms often lead a doctor to recommend this test.
- Unsteady gait or persistent difficulty walking
- Poor coordination of the limbs or hands
- Slurred or unclear speech
- Problems with balance when standing or moving
- Abnormal eye movements
- Difficulty chewing or swallowing
- Tremors or involuntary jerking movements
Conditions This Test Can Help Detect
This test can help identify a range of hereditary neurological conditions, including the following.
- Spinocerebellar ataxias (SCA types 1, 2, 3, 6, 7, and others; over 40 types are recognised)
- Friedreich's ataxia, which affects the nervous system and causes progressive movement problems
- Ataxia-telangiectasia, characterised by balance and coordination difficulties alongside immune system involvement
- Episodic ataxias, rare conditions involving recurring bouts of incoordination and loss of balance
- Dentatorubral pallidoluysian atrophy (DRPLA) and fragile X-associated tremor-ataxia syndrome (FXTAS)
How to Prepare and What to Expect
No special preparation is required before an Ataxia Gene Panel Test. The sections below explain what to keep in mind before and during sample collection.
Do You Need to Fast?
No. Fasting is not required for this test. You can eat and drink normally before your appointment.
Practical Tips Before Your Test
Keep the following points in mind before your test.
- 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 bone marrow transplant from a donor (someone other than yourself), as this can interfere with the DNA analysis.
- Inform your doctor about any recent blood transfusions for the same reason.
- Consulting a certified genetic counsellor before testing is strongly recommended, as the Ataxia Gene Panel test procedure is complex and requires the selection of the right panel.
- Wear clothing that allows easy access to your arm for a blood draw.
Step-by-Step Procedure
This test requires the collection of peripheral blood. In some cases, additional sample types (CVS or amniotic fluid) may be collected as directed by your doctor.
Peripheral Blood Collection:
- A trained phlebotomist cleans the inside of your elbow and locates a suitable vein.
- A small amount of blood (approximately 2 to 3 ml) is drawn into an EDTA (lavender-top) tube.
- The sample is labelled with your name, date of birth, and collection date.
- The sample is stored at a refrigerated temperature of 2 to 8 degrees Celsius and dispatched to the laboratory.
- DNA is extracted and analysed using next-generation sequencing (NGS) technology.
- Any significant variants identified are confirmed using additional methods such as Sanger sequencing or quantitative PCR (qPCR).
CVS or Amniotic Fluid Collection (if applicable):
- This procedure is performed by a specialist at the centre under medical supervision.
- A sample of chorionic villus tissue (approximately 30 mg) or amniotic fluid (approximately 20 ml) is collected using a sterile container.
- The sample is stored under refrigeration and sent to the laboratory for genetic analysis.
Factors That Can Affect Accuracy
The following factors may affect the reliability of results.
- Recent blood transfusions or a bone marrow transplant from a donor
- Low quantity or poor quality of DNA in the sample
- Mislabelled or improperly stored samples
- Somatic mosaicism (when different cells in the body carry different genetic changes)
Understanding Your Ataxia Gene Panel Test Results
Results from a genetic test like this require careful interpretation by a qualified doctor or genetic counsellor. The table below describes the main types of findings and what they generally mean.
| Finding | Interpretation |
|---|---|
| No pathogenic variants detected | Negative result; no disease-causing changes found in the genes tested |
| Pathogenic or likely pathogenic variant identified | Molecular confirmation of a specific hereditary ataxia type; may guide family testing |
| Variant of Uncertain Significance (VUS) reported | A genetic change whose health impact is not yet fully understood; further follow-up is required |
| CAG repeat count within normal range | No abnormal repeat expansion detected in the tested genes |
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.
A negative result does not completely rule out a genetic ataxia. Not all causative genes are yet known, and a doctor may recommend additional testing based on clinical findings.
How to Maintain Healthy Levels
While there is no cure for hereditary ataxia, the following steps can support overall well-being.
- Engage regularly with a neurologist and follow a tailored physiotherapy or speech therapy programme to help manage symptoms.
- Keep a record of any new or changing symptoms and share these at every medical appointment.
- Consider genetic counselling to understand the implications for family members and for future family planning.
Lupin Diagnostics Ataxia Gene Panel Test Price
The Ataxia Gene Panel Test cost at Lupin Diagnostics starts at ₹14,400. 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 Ataxia 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 15 days.
Frequently Asked Questions
The Ataxia Gene Panel Test is a genetic test that examines hundreds of genes associated with hereditary ataxia, a group of disorders affecting coordination, balance, and speech. It helps identify specific DNA changes that cause different types of inherited ataxia, supporting accurate diagnosis and family planning decisions.
This test is recommended for individuals who show symptoms of ataxia, such as unsteady walking, poor coordination, or slurred speech, or who have a family history of hereditary ataxia. A neurologist or genetic counsellor can advise whether this panel is the right choice for your situation.
No fasting or special dietary changes are needed. You should bring a complete clinical and family history to your appointment, and inform your doctor about any previous bone marrow transplants or recent blood transfusions, as these can affect results.
A negative result means no disease-causing genetic variants were found in the genes tested. However, a negative result does not completely rule out a hereditary ataxia, as not all causative genes are currently known. Your doctor may suggest further evaluation if symptoms persist.
A VUS is a genetic change that has been detected but whose effect on health is not yet clearly understood. As more evidence accumulates from research and patient data, a VUS may later be reclassified as either benign (harmless) or pathogenic (disease-causing). Genetic counselling is recommended when a VUS is reported.
At Lupin Diagnostics, the report is delivered within 15 days of sample collection. This turnaround time reflects the complexity of the analysis, which involves sequencing and interpreting a large number of genes.
Yes, genetic counselling is strongly recommended both before and after the test. The Ataxia Gene Panel test procedure involves complex technology and results that can have significant implications for the patient and their family. A certified genetic counsellor can help choose the right panel and guide you through the interpretation of results.
Ataxia Gene Panel Test: Booking, Price, and Results
