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SCA-11 (Spinocerebellar Ataxia): TTBK2 Gene Mutation Test

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SCA-11 (Spinocerebellar Ataxia): TTBK2 Gene Mutation Test

Short Name: SCA-11 TTBK2 Gene Mutation Test

Also known as: SCA-11, Spinocerebellar Ataxia Type 11, TTBK2 Gene Mutation Test

SCA-11 (Spinocerebellar Ataxia): TTBK2 Gene Mutation Test test available at DNA Labs India for ₹7,500. Uses PCR, Sequencing on Whole Blood samples. Results in Reports are usually ready within 10–12 days from the date the sample is received at the laboratory.. Free home collection in 300+ cities across India.

Molecular Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect a mutation in exon 12 of the TTBK2 gene in order to confirm or exclude the diagnosis of SCA-11 in symptomatic individuals and to clarify genetic risk in families with a suspected or known TTBK2 mutation.

Test Code
3631
ICD Code
G11.8
Price
₹7,500
Sample Type
Whole Blood
Result Time
Reports are usually ready within 10–12 days from the date the sample is received at the laboratory.
Fasting Required
No
Method
PCR, Sequencing
Step 1

Sample Collection

Fasting is not required. Please carry a valid doctor's referral if available and complete the Genomics Clinical Information Requisition Form (Form 20). Inform the laboratory about any relevant family history of ataxia.

Method: Peripheral venous blood draw

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample from a vein in the arm using a sterile needle. A lavender top EDTA tube is used. The procedure is usually quick and causes minimal discomfort.

Step 3

Report Delivery

You can resume daily activities immediately after sample collection. Mild bruising or soreness at the puncture site is normal and resolves on its own. The collected sample should be transported to the laboratory under refrigerated conditions.

Timeline: Reports are usually ready within 10–12 days from the date the sample is received at the laboratory.

Patient Instructions

1
Before the Test:Fasting is not required. Complete the mandatory Genomics Clinical Information Requisition Form (Form 20). No other special preparation is needed.
2
During the Test:A blood sample is collected from a vein in the arm into a lavender top EDTA tube. The sample is then sent to the laboratory for PCR and sequencing analysis.
3
After the Test:No restrictions are required after blood collection. The laboratory will process the sample and make the report available within 10-12 days.

About This Test

Who Should Get This Test

To detect a mutation in exon 12 of the TTBK2 gene in order to confirm or exclude the diagnosis of SCA-11 in symptomatic individuals and to clarify genetic risk in families with a suspected or known TTBK2 mutation.

How to Prepare

  • No fasting is required.
  • Duly fill the Genomics Clinical Information Requisition Form (Form 20).
  • Collect whole blood in a lavender top EDTA tube.
  • Ship the sample refrigerated. Do not freeze.
  • Ensure correct patient identification and labeling.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic confirmation of SCA-11 should be performed in the context of formal genetic counseling. A physician or genetic counselor can help interpret the result, discuss recurrence risk and explain the implications for family members."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood
Sample Volume4 mL (2 mL min.)
ContainerLavender top (EDTA) tube
Collection MethodPeripheral venous blood draw

Sample Stability

Room Temperature: 6 hours
Refrigerator: 1 week
Frozen: Not acceptable
Sample Rejection Criteria:
  • Missing or incomplete Genomics Clinical Information Requisition Form (Form 20)
  • Clotted or visibly haemolysed sample
  • Frozen sample
  • Sample received in a wrong collection tube
  • Incorrect or missing patient identification

Understanding Your Results

This is a qualitative genetic test. The result must be interpreted in the context of clinical presentation, family history, and genetic counseling. A pathogenic or likely pathogenic variant in TTBK2 confirms the diagnosis in a clinically affected individual.
📊

Pathogenic or likely pathogenic variant detected

Confirms the diagnosis of SCA-11 when clinical features are consistent. Genetic counseling is advised for the patient and family members.

📊

No pathogenic variant detected

Reduces the likelihood of SCA-11 caused by a mutation in the tested exon 12 region. Other genetic and non-genetic causes of ataxia should still be considered.

📊

Variant of uncertain significance

Cannot confirm or exclude the diagnosis. Further testing, family studies and evaluation by a clinical geneticist are recommended.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you or a family member experience progressive imbalance, poor coordination, tremor, speech or swallowing difficulty, or if there is a known family history of SCA-11.

Limitations

  • ⚠This test targets exon 12 of the TTBK2 gene only; mutations in other regions of the gene may not be detected.
  • ⚠Large deletions, duplications or deep intronic variants may not be identified by PCR and Sanger sequencing alone.
  • ⚠A negative result does not completely exclude SCA-11 or another inherited ataxia.
  • ⚠A variant of uncertain significance may require additional family segregation studies and genetic counseling.

Risks & Considerations

  • ●Minor discomfort during blood collection
  • ●Mild bruising at the puncture site
  • ●Rarely, infection or prolonged bleeding

Interfering Factors

  • ●Clotted or haemolysed blood sample
  • ●Insufficient DNA quantity or quality
  • ●Contamination during sample processing
  • ●Mutations located outside exon 12 of TTBK2 are not covered by this targeted test

Compare With Similar Tests

TestSCA-11 (Spinocerebellar Ataxia): TTBK2 Gene Mutation Test
ComparisonSCA-11 (Spinocerebellar Ataxia): TTBK2 Gene Mutation Test

Frequently Asked Questions

What is SCA-11?
SCA-11 is a rare inherited neurological disorder caused by a pathogenic variant in the TTBK2 gene. It leads to degeneration of the cerebellum and causes progressive unsteadiness, loss of coordination, tremors, speech and swallowing difficulties, and abnormal eye movements.
What does the TTBK2 gene mutation test detect?
This targeted genetic test analyzes exon 12 of the TTBK2 gene using PCR and sequencing to detect disease-causing variants associated with SCA-11.
Who should get tested for SCA-11?
People with symptoms such as progressive balance problems, poor coordination, tremor, slurred speech, swallowing difficulty, or a family history of SCA-11 or autosomal dominant cerebellar ataxia may be considered for testing. A neurologist or genetic counselor should guide testing decisions.
Is fasting required before the TTBK2 gene mutation test?
No, fasting is not required for this genetic test.
What sample is needed for the SCA-11 test?
A whole blood sample of 4 mL (2 mL minimum) is needed. It should be collected in a lavender top EDTA tube and shipped refrigerated. The sample must not be frozen.
What is the cost of the SCA-11 TTBK2 gene mutation test?
The test costs INR 7500 at DNA Labs India. Free home sample collection is available for online bookings in many cities across India.
How long does the report take?
Reports are usually available within 10–12 days after the sample is received at the laboratory.
What does a positive TTBK2 gene test result mean?
A positive result indicates that a pathogenic or likely pathogenic variant has been detected in the tested exon 12 region of the TTBK2 gene. This confirms the diagnosis of SCA-11 when clinical features are consistent.
What does a negative TTBK2 gene test result mean?
A negative result means no mutation was found in the tested region. It reduces the likelihood of SCA-11 but does not completely exclude it. Other genetic or non-genetic causes of ataxia may still be possible, and genetic counseling is advised.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings for the SCA-11 TTBK2 gene mutation test in many cities across India.
Is this test suitable for prenatal diagnosis?
Prenatal diagnosis for SCA-11 requires prior characterization of the familial mutation and should be discussed with a clinical geneticist. Additional counseling and procedural requirements apply.
Can this test detect all types of spinocerebellar ataxia?
No. This test is specific for the TTBK2 gene and SCA-11. Other forms of spinocerebellar ataxia are caused by different genes and require separate genetic tests or a comprehensive ataxia panel.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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