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SCA-11 Spinocerebellar Ataxia Type 11 Test: Booking, Price, and Results

About SCA-11 Spinocerebellar Ataxia Type 11 Test: Booking, Price, and Results

Field	Value
Also Known As	SCA11, Spinocerebellar Ataxia 11, TTBK2 Gene Mutation Test, ADCA Type III Test
Sample Type	Whole blood (collected in an EDTA tube)
Fasting Required	No fasting required
Report Time	15 days
Recommended For	All genders and ages; primarily those with progressive ataxia symptoms or a family history of SCA11
Price	Starting at ₹6,600

What is a SCA-11 Spinocerebellar Ataxia Type 11 Test?

The SCA-11 Spinocerebellar Ataxia Type 11 test is a molecular genetic test that analyses the TTBK2 gene for mutations linked to a rare inherited neurological condition. It is prescribed for individuals who show signs of progressive cerebellar ataxia (loss of coordination and balance) or those who have a family history of the condition. A small whole blood sample is collected for testing. This test is also referred to as the TTBK2 Gene Mutation Test or the SCA11 test.

What Does a SCA-11 Spinocerebellar Ataxia Type 11 Test Measure?

The SCA-11 Spinocerebellar Ataxia Type 11 test examines the TTBK2 gene, which sits on chromosome 15 and carries instructions for making an enzyme that helps regulate cell signalling. Mutations in this gene cause the condition. The test looks for specific types of changes in this gene.

The following components are analysed during testing:

Component	What It Means
TTBK2 gene pathogenic variant	A confirmed disease-causing mutation in the TTBK2 gene that indicates SCA11
Frameshift mutations (insertions or deletions)	Small additions or removals of genetic material that alter the gene's function
Variant of uncertain significance (VUS)	A genetic change whose clinical impact is not yet fully understood

Why is a SCA-11 Spinocerebellar Ataxia Type 11 Test Done?

Doctors order the SCA-11 Spinocerebellar Ataxia Type 11 test when a patient's symptoms or family history point towards this rare inherited condition. It helps confirm a diagnosis or guide family planning decisions.

Common Symptoms That May Require This Test

The following symptoms may prompt a doctor to recommend the SCA-11 Spinocerebellar Ataxia Type 11 test procedure:

Progressive difficulty with balance and coordination (cerebellar ataxia)
Involuntary eye movements, including jerky eye pursuit and nystagmus (rapid, uncontrolled eye flickering)
Abnormal or exaggerated muscle reflexes (pyramidal features)
Numbness or weakness in the limbs due to peripheral nerve involvement
Involuntary muscle contractions (dystonia), though this is uncommon in SCA11

Conditions This Test Can Help Detect

Testing can help identify the following conditions:

Spinocerebellar ataxia type 11 (SCA11), a rare autosomal dominant neurological disorder
TTBK2 gene mutations linked to slowly progressive cerebellar degeneration
Inherited ataxia in families with a known history of progressive coordination disorders

How to Prepare and What to Expect

Preparation for the SCA-11 Spinocerebellar Ataxia Type 11 test is straightforward. No major restrictions apply before the test, but a few steps will help the process go smoothly.

Do You Need to Fast?

No fasting is required before this test. You may eat and drink normally before sample collection.

Practical Tips Before Your Test

The following tips will help ensure a smooth experience:

Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
Have your referring doctor's contact details ready
Inform the collection team if you have had a bone marrow or stem cell transplant from another donor, as this may interfere with the test result
Consider seeking genetic counselling before the test to understand what the results may mean for you and your family

Step-by-Step Procedure

Here is what to expect during the SCA-11 Spinocerebellar Ataxia Type 11 test procedure:

A trained phlebotomist will clean a vein in your arm and draw a small blood sample (approximately 5 ml).
The blood is collected in a lavender-top EDTA tube, which contains an anticoagulant to keep the sample stable.
The sample is labelled and stored at a refrigerated temperature (2 to 8 degrees Celsius) for transport.
The sample is sent to the laboratory, where the TTBK2 gene is analysed using Sanger sequencing, a method that reads the exact order of genetic letters in the gene to spot any changes.
Qualified genetic specialists review the sequencing data to identify any pathogenic variants.
Your report is prepared and shared with you digitally within 15 days.

Factors That Can Affect Accuracy

The following factors may affect the accuracy of your test result:

Poor sample quality due to improper collection or handling
A prior bone marrow or stem cell transplant from another donor, which can introduce foreign DNA into the sample
The presence of mosaicism, where only some cells carry the mutation, making detection more difficult
Improper storage or transport of the sample before it reaches the laboratory

Understanding Your SCA-11 Spinocerebellar Ataxia Type 11 Results

Results from this genetic test require careful interpretation by a neurologist or genetic counsellor who is familiar with your full clinical picture. The table below outlines what each possible finding means.

Parameter	Result	Interpretation
TTBK2 pathogenic variant	Not detected	No SCA11-causing mutation found; does not rule out other ataxia subtypes
TTBK2 pathogenic variant	Detected (heterozygous)	Confirms SCA11 diagnosis; inherited in an autosomal dominant pattern
Variant of uncertain significance (VUS)	Detected	Requires further clinical review and possible testing of family members

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

Since SCA11 is a genetic condition, it cannot be prevented through lifestyle changes. However, the following general wellness steps may support neurological health:

Stay physically active with guided physiotherapy exercises to support balance and coordination
Attend regular follow-up appointments with a neurologist for monitoring and supportive management
Speak with a genetic counsellor about implications for family members, particularly children of an affected individual

Lupin Diagnostics SCA-11 Spinocerebellar Ataxia Type 11 Test Price and Home Collection

The SCA-11 Spinocerebellar Ataxia Type 11 test cost at Lupin Diagnostics starts at ₹6,600, and home sample collection is available in select cities.

City	Approximate Price (₹)
BHOPAL	6600
CHENNAI	6600
HYDERABAD	6600
KOLKATA	6600
NAVI MUMBAI	6600
PUNE	6600

Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.

How to Book

Getting the SCA-11 Spinocerebellar Ataxia Type 11 test online booking is simple:

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 sample collection for this test across multiple cities in India. All samples are processed in NABL-accredited laboratories by experienced specialists. Your digital report is shared securely via email or WhatsApp once ready.

Frequently Asked Questions

SCA11 is a rare inherited neurological disorder caused by frameshift mutations in the TTBK2 gene. Unlike many other spinocerebellar ataxia types, which are caused by abnormal repetition of genetic sequences (trinucleotide repeat expansions), SCA11 is caused by small insertions or deletions in the TTBK2 gene. It is generally considered a slowly progressive and relatively benign form of hereditary ataxia.

This test is recommended for individuals who show progressive cerebellar ataxia, involuntary eye movements, or other coordination problems, especially when there is a family history of a similar condition. A neurologist may also recommend it as part of a broader genetic panel to identify the exact subtype of ataxia.

SCA11 is an extremely rare condition. It is thought to account for less than 1% of autosomal dominant ataxia cases globally. Only a very small number of confirmed cases have been documented in medical literature to date.

A negative result means no pathogenic variant was found in the TTBK2 gene. This does not rule out other types of spinocerebellar ataxia. Your doctor may recommend testing for other SCA subtypes or a broader ataxia panel if symptoms persist.

SCA11 follows an autosomal dominant inheritance pattern, meaning each child of an affected person has a 50% chance of inheriting the mutation. Genetic counselling is strongly recommended to help family members understand their risk and discuss testing options.

The age at which symptoms begin varies widely. In reported cases, onset has ranged from as early as nine years to as late as 40 or 50 years, depending on the specific family and genetic variant involved.

There is currently no disease-modifying treatment for SCA11. Management focuses on supportive care, including physiotherapy to improve balance, occupational therapy, speech and language therapy, and regular neurological evaluations to monitor progression.