(SCA-12) Spinocerebellar Ataxia Type 12 Test: Booking, Price, and Results
About (SCA-12) Spinocerebellar Ataxia Type 12 Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | SCA12 Test, SCA-12 DNA Detection, PPP2R2B Gene Mutation Test, Spinocerebellar Ataxia Type 12 Genetic Test, SCA12 PCR Test |
| Sample Type | Whole blood (EDTA tube) |
| Fasting Required | No |
| Report Time | 15 days |
| Recommended For | Adults with symptoms of ataxia or tremor; individuals with a family history of SCA12 (all genders) |
| Price | Starting at ₹2,800 |
What Is an (SCA-12) Spinocerebellar Ataxia Type 12 Test?
The SCA-12 Spinocerebellar Ataxia Type 12 Test is a specialised genetic test that analyses the PPP2R2B gene for abnormal CAG trinucleotide repeat expansions. It is used to confirm or rule out spinocerebellar ataxia type 12, a rare inherited neurological condition. A small blood sample is collected into an EDTA tube and sent to the laboratory for DNA analysis. The test is also known as the SCA-12 DNA Detection test or the PPP2R2B Gene Mutation Test.
What Does an (SCA-12) Spinocerebellar Ataxia Type 12 Test Measure?
This test examines a specific stretch of DNA in the PPP2R2B gene to count the number of CAG repeat sequences present. The two key components analysed are listed below.
| Parameter | What It Assesses |
|---|---|
| CAG Repeat Length (PPP2R2B gene) | Counts the number of CAG trinucleotide repeats; an expansion beyond the normal range points to SCA12 |
| PCR Analysis | Uses polymerase chain reaction (a method to copy and measure DNA sequences) to determine the repeat count within one to two triplets |
PPP2R2B is the only gene currently known to cause SCA12. The test is designed to detect nearly all expanded alleles (gene variants) associated with this condition.
Why Is an (SCA-12) Spinocerebellar Ataxia Type 12 Test Done?
A doctor may order this test when a patient presents with unexplained tremors, coordination difficulties, or a family history pointing to hereditary ataxia.
Common Symptoms That May Require This Test
The following symptoms are typical reasons a doctor may request this test.
- Action tremor (shaking that occurs during voluntary movement, particularly in the hands)
- Unsteady gait and difficulty walking
- Speaking difficulty due to tongue muscle weakness
- Poor coordination and balance (ataxia)
- Slow movement (bradykinesia)
- Overactive reflexes (hyperreflexia)
- Abnormal eye movements
- Cognitive changes, such as memory or concentration difficulties
Conditions This Test Can Help Detect
This test can help identify or clarify the following conditions.
- Spinocerebellar ataxia type 12 (SCA12) in symptomatic individuals
- Dysmetria (impaired coordination of limb movements), anxiety, and depression associated with SCA12
- Carrier or presymptomatic status in at-risk family members who have not yet developed symptoms
How to Prepare and What to Expect
Preparing for this test is straightforward. The steps below cover fasting, practical tips, the collection procedure, and factors that may affect accuracy.
Do You Need to Fast?
No fasting is required before this test. Genetic testing analyses inherited DNA, which is not affected by food or drink consumed before the blood draw.
Practical Tips Before Your Test
The following tips will help you prepare effectively for the 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 about any recent blood transfusions or bone marrow transplants, as these procedures may affect results
- Speak with a genetic counsellor before and after testing to understand the implications of possible outcomes
- Stay well hydrated before the blood draw to make vein access easier
Step-by-Step Procedure
Here is what happens from the point of sample collection to dispatch.
- A trained phlebotomist (blood collection professional) cleans the inside of your elbow with an antiseptic swab.
- A needle is used to draw approximately 3 ml of blood from a vein, which is collected into a lavender-top EDTA tube.
- The sample is labelled with your details and the date of collection.
- The tube is stored at 2°C to 8°C (refrigerator temperature) and transported to the laboratory within the required timeframe.
- At the laboratory, DNA is extracted from your blood sample.
- A SCA-12 PCR test method (repeat-primed polymerase chain reaction) is used to count the number of CAG trinucleotide repeats in the PPP2R2B gene.
Factors That Can Affect Accuracy
Certain situations may interfere with the reliability of this test. These include:
- Recent blood transfusions or bone marrow transplants (may introduce donor DNA)
- Sample mislabelling at the point of collection
- Somatic mosaicism (when cells in the body carry different genetic information)
- Rare genetic variants that may cause allele dropout during PCR analysis
Understanding Your (SCA-12) Spinocerebellar Ataxia Type 12 Results
Results from this test must always be reviewed with a qualified doctor or genetic counsellor. The table below outlines the general reference ranges for CAG repeat length in the PPP2R2B gene.
| Category | CAG Repeat Count | Interpretation |
|---|---|---|
| Normal | 4 to 32 triplets | No genetic evidence of SCA12 |
| Intermediate | 33 to 42 repeats | Clinical significance unclear; expert interpretation required |
| Pathogenic | 43 or more repeats | Associated with SCA12; 51 or more repeats is considered fully diagnostic |
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 is a genetic test, the result itself does not change. However, those diagnosed with SCA12 can take the following steps to support their well-being.
- Engage in regular physical therapy and balance exercises to help maintain mobility and coordination.
- Seek assistance with fine-motor tasks, such as writing, if tremor affects daily activities.
- Connect with a genetic counsellor or patient support group for emotional and social support after receiving results.
Lupin Diagnostics (SCA-12) Spinocerebellar Ataxia Type 12 Test Price and Home Collection
The SCA-12 Spinocerebellar Ataxia Type 12 Test is priced starting at 2,800 at Lupin Diagnostics, and home collection is available across cities. Please check the city-wise table below for indicative pricing.
| City | Approximate Price ( ) |
|---|---|
| Mumbai | 2,800 |
| Bhopal | 2,800 |
| Bengaluru | 2,800 |
| Hyderabad | 2,800 |
| Pune | 2,800 |
| Chennai | 2,800 |
| Kolkata | 2,800 |
| Indore | 2,800 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
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 blood collection for this test across multiple cities, making it convenient to get tested without visiting a centre. All samples are processed in NABL-accredited laboratories by experienced professionals. Your digital report is shared securely via email or WhatsApp once ready.
Frequently Asked Questions
The SCA-12 Spinocerebellar Ataxia Type 12 Test is a genetic test that uses PCR technology to count the number of CAG trinucleotide repeats in the PPP2R2B gene. An abnormal expansion in this gene is the known cause of SCA12. The test is used both to diagnose the condition in symptomatic individuals and to identify the mutation in at-risk family members before symptoms appear.
This test is relevant for adults who have progressive hand or head tremors, unsteady gait, or poor coordination that cannot be explained by routine tests. It is also offered to close family members of someone diagnosed with SCA12, as predictive or presymptomatic testing using the PPP2R2B Gene Mutation Test can clarify their genetic status.
Yes, SCA12 is more commonly reported in India than elsewhere in the world. A large proportion of affected families have been identified in India, particularly within the Agarwal community. While still a rare condition overall, it is more frequently diagnosed here than in other countries.
Symptoms typically begin in the fourth to fifth decade of life, with an average age of onset of around 46 years. The first noticeable symptom is usually action tremor of the hands, which progresses slowly over time to include coordination difficulties and other neurological signs.
Yes, genetic counselling is strongly recommended before and after this test. A counsellor helps you understand the possible outcomes, the implications for family members, and the emotional and social aspects of a genetic diagnosis. This is especially relevant because SCA12 currently has no cure.
No, the test cannot reliably predict the age at which symptoms will appear. There is no clear correlation between the number of CAG repeats and the timing or severity of symptoms. The test confirms whether the mutation is present, but it does not provide a timeline for disease progression.
Yes, SCA12 follows an autosomal dominant inheritance pattern. This means that one copy of the abnormal PPP2R2B gene is enough to cause the condition. If a parent carries the mutation, each child has a 50% chance of inheriting it, regardless of gender.
(SCA-12) Spinocerebellar Ataxia Type 12 Test: Booking, Price, and Results
