SCA-6 Spinocerebellar Ataxia Type 6 Test: Booking, Price, and Results
About SCA-6 Spinocerebellar Ataxia Type 6 Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | SCA6, Spinocerebellar Ataxia 6, CACNA1A CAG Repeat Expansion Test |
| Sample Type | Whole blood (EDTA tube, lavender-top) |
| Fasting Required | No fasting required |
| Report Time | 15 days |
| Recommended For | Adults with symptoms of cerebellar ataxia; individuals with a family history of SCA6; both genders |
| Price | Starting at ₹2,800 |
What is a SCA-6 Spinocerebellar Ataxia Type 6 Test?
The SCA-6 Spinocerebellar Ataxia Type 6 test is a genetic blood test that detects a specific mutation in the CACNA1A gene. This gene provides instructions for making calcium channel proteins in nerve cells. The test is typically ordered for adults who show signs of progressive loss of coordination or who have a family history of the condition. It is also known as the CACNA1A CAG Repeat Expansion Test or simply the SCA6 test.
What Does a SCA-6 Spinocerebellar Ataxia Type 6 Test Measure?
The test analyses the CACNA1A gene on chromosome 19 for an abnormal number of CAG (cytosine-adenine-guanine) trinucleotide repeats. In healthy individuals, this sequence is repeated up to 18 times. A higher number of repeats is associated with SCA6.
The table below shows what the test measures:
| Parameter | What It Detects |
|---|---|
| CAG Repeat Count | The number of times the CAG sequence repeats in the CACNA1A gene; higher counts indicate a disease-causing mutation |
Why is a SCA-6 Spinocerebellar Ataxia Type 6 Test Done?
This test is ordered when a doctor suspects a hereditary form of cerebellar ataxia (loss of coordination caused by changes in the cerebellum, the part of the brain that controls movement). It can confirm a diagnosis and help families understand their genetic risk.
Common Symptoms That May Require This Test
The following symptoms may prompt a doctor to order the SCA-6 Spinocerebellar Ataxia Type 6 test:
- Unsteady walking or stumbling (gait unsteadiness)
- General loss of balance and coordination
- Slurred or unclear speech (dysarthria)
- Difficulty swallowing (dysphagia)
- Double vision (diplopia)
- Involuntary eye movements (nystagmus)
Conditions This Test Can Help Detect
The test helps identify or rule out the following:
- Spinocerebellar ataxia type 6 (SCA6), a slowly progressive neurological condition causing adult-onset loss of coordination
- Other hereditary ataxias that may present with similar symptoms, helping doctors distinguish SCA6 from related conditions
How to Prepare and What to Expect
No special preparation is needed for the SCA-6 Spinocerebellar Ataxia Type 6 test procedure. The steps and tips below will help you feel ready on the day of collection.
Do You Need to Fast?
No. Fasting is not required for this test. You may eat and drink as normal before your blood sample is collected.
Practical Tips Before Your Test
Here are a few things to keep in mind before your appointment:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test.
- Inform the laboratory if you have had a recent blood transfusion or bone marrow transplant, as these may affect the result.
- Genetic counselling before testing is recommended, especially for presymptomatic testing.
- Bring a valid photo ID and any relevant medical documents or referral letters.
Step-by-Step Procedure
The blood collection process for this test is straightforward:
- A trained phlebotomist cleans the inner elbow area with an antiseptic wipe.
- A small needle is used to draw approximately 5 mL of blood into a lavender-top EDTA tube.
- The sample is labelled carefully with your details and stored at 2 to 8 degrees Celsius.
- The sample is dispatched to the molecular genetics laboratory on scheduled working days (Monday to Saturday).
- In the laboratory, DNA is extracted from the blood and analysed using Sanger sequencing to count CAG repeats in the CACNA1A gene.
- An interpretive report is prepared and delivered to you within 15 days.
Factors That Can Affect Accuracy
Certain situations may affect the reliability of the result:
- Recent blood transfusion or bone marrow transplant
- Mislabelled or improperly stored samples
- Rare genetic variants not fully documented in current databases
- Somatic mosaicism (where cells in the body carry different genetic material)
- Incomplete or missing clinical history provided at the time of testing
Understanding Your SCA-6 Spinocerebellar Ataxia Type 6 Test Results
Results report the number of CAG repeats detected in the CACNA1A gene. Your doctor will interpret these findings alongside your symptoms, personal history, and family background. The table below gives a general guide to result categories:
| Classification | CAG Repeat Count | Meaning |
|---|---|---|
| Normal | 18 repeats or fewer | No SCA6 mutation detected |
| Intermediate | 19 repeats | Uncertain clinical significance |
| Pathogenic | 20 to 33 repeats | Disease-causing mutation; associated with SCA6 |
A normal result does not rule out other forms of ataxia if symptoms are present. A pathogenic result means the CACNA1A mutation associated with SCA6 has been identified. Children of an affected individual have a 50% chance of inheriting the mutation.
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
Since SCA6 is caused by a genetic mutation, lifestyle changes cannot alter the gene itself. However, the following general tips may support overall well-being:
- Stay physically active within your comfort level; regular movement supports coordination and muscle strength.
- Work with a physiotherapist to develop exercises that help maintain balance and mobility.
- Consult a neurologist and genetic counsellor after receiving results to plan next steps for you and your family.
Lupin Diagnostics SCA-6 Spinocerebellar Ataxia Type 6 Test Price and Home Collection
The SCA-6 Spinocerebellar Ataxia Type 6 test cost at Lupin Diagnostics starts at ₹2,800, and home sample collection is available across cities. The table below lists indicative prices by city:
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 2800 |
| CHENNAI | 2800 |
| HYDERABAD | 2800 |
| KOLKATA | 2800 |
| NAVI MUMBAI | 2800 |
| PUNE | 2800 |
Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
You can book the SCA-6 Spinocerebellar Ataxia Type 6 test online booking in a few simple steps:
- Select the 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 the stipulated turnaround time.
Home Collection
Lupin Diagnostics offers home collection for the SCA-6 Spinocerebellar Ataxia Type 6 test across multiple cities. All samples are processed in NABL-accredited laboratories by experienced molecular genetics professionals. Your digital report is shared via email or WhatsApp once ready.
Frequently Asked Questions
The SCA-6 Spinocerebellar Ataxia Type 6 test is used to confirm whether an abnormal CAG repeat expansion in the CACNA1A gene is present. It is ordered for individuals showing symptoms of progressive cerebellar ataxia or those with a known family history of the condition. A confirmed result helps doctors and families plan appropriate next steps.
No fasting is needed. You may eat and drink normally before your sample is collected. Simply bring your clinical history and any relevant medical documents on the day of your appointment.
At Lupin Diagnostics, the report for the SCA-6 Spinocerebellar Ataxia Type 6 test is delivered within 15 days. This is because the test uses Sanger sequencing, a detailed method of DNA analysis that takes time to complete accurately.
A positive result means a pathogenic CAG repeat expansion of 20 or more repeats has been detected in the CACNA1A gene, confirming a diagnosis of SCA6. Your doctor will discuss what this means for your health and your family. Genetic counselling is strongly recommended after a positive result.
Yes. Presymptomatic testing is possible for at-risk relatives once a mutation has been confirmed in a family member. SCA6 follows an autosomal dominant inheritance pattern, meaning each child of an affected individual has a 50 percent chance of inheriting the mutation.
If a CACNA1A CAG repeat expansion has already been identified in a family member, prenatal testing may be considered. This is not a routine pregnancy screening test; it is only relevant for families with a confirmed history of SCA6. Speak to a genetic counsellor for guidance.
Currently, there is no cure for SCA6. Treatment focuses on managing symptoms and maintaining quality of life. Physical therapy, balance aids, and regular neurology follow-ups can help people manage daily activities. Research into new treatments is ongoing.
SCA-6 Spinocerebellar Ataxia Type 6 Test: Booking, Price, and Results
