Home TestSca 5 Spinocerebellar Ataxia Type 5 Sptbn2 Gene Mutation Test

SCA-5 Spinocerebellar Ataxia Type 5, SPTBN2 Gene Mutation: Booking, Price, and Results

About SCA-5 Spinocerebellar Ataxia Type 5, SPTBN2 Gene Mutation: Booking, Price, and Results

Field	Value
Also Known As	SCA5 genetic test, Spinocerebellar Ataxia Type 5 test, SPTBN2 gene sequencing, Lincoln ataxia genetic test, beta-III spectrin gene test
Sample Type	Whole blood (EDTA tube)
Fasting Required	No
Report Time	15 days
Recommended For	Males and females of any age with symptoms or a family history of cerebellar ataxia
Price	Starting at ₹6,600

What is a SCA-5 Spinocerebellar Ataxia Type 5, SPTBN2 Gene Mutation Test?

The SCA-5 Spinocerebellar Ataxia Type 5, SPTBN2 Gene mutation test is a specialised genetic test. It analyses the SPTBN2 gene (spectrin beta nonerythrocytic 2 gene) in your DNA to detect changes that cause Spinocerebellar Ataxia Type 5, a progressive condition affecting coordination and movement. The test is performed on a small whole blood sample collected in an EDTA tube. It is also known as the SPTBN2 gene sequencing test or the SCA5 genetic test.

What Does a SCA-5 Spinocerebellar Ataxia Type 5, SPTBN2 Gene Mutation Test Measure?

The SPTBN2 gene carries instructions for making a protein called beta-III spectrin. This protein is essential for the healthy functioning of nerve cells in the cerebellum, the part of the brain that controls balance and coordination. The SPTBN2 Gene mutation test looks for harmful changes in this gene using MLPA (Multiplex Ligation-dependent Probe Amplification), a method that can detect both point mutations and larger deletions or duplications in the gene.

The test analyses the following:

Parameter	What It Identifies
SPTBN2 gene mutation analysis	Detects pathogenic variants (harmful changes) in the SPTBN2 gene that cause SCA5
Variant classification	Classifies any change found as benign, likely benign, variant of uncertain significance, likely pathogenic, or pathogenic

Why is a SCA-5 Spinocerebellar Ataxia Type 5, SPTBN2 Gene Mutation Test Done?

A doctor may order this test when a patient shows signs of progressive cerebellar ataxia or has a family member with a confirmed SCA5 mutation. Here are the main reasons this test is requested.

Common Symptoms That May Require This Test

The following symptoms may prompt a doctor to recommend the SCA-5 Spinocerebellar Ataxia Type 5 test:

Unsteady walking or difficulty maintaining balance (gait ataxia)
Difficulty coordinating limb movements (limb ataxia)
Slurred or unclear speech (dysarthria)
Abnormal or uncontrolled eye movements
Sensory disturbances in the limbs
Exaggerated reflex responses (hyperactive deep tendon reflexes)
Instability of the trunk while sitting or standing

Conditions This Test Can Help Detect

This test can provide information relevant to several related conditions:

Spinocerebellar Ataxia Type 5 (SCA5), caused by a single mutated copy of the SPTBN2 gene (autosomal dominant inheritance)
Autosomal recessive spinocerebellar ataxia type 14 (SCAR14), occurs when two mutated copies of the SPTBN2 gene are inherited (one from each parent)
Carrier status in at-risk family members of someone with a confirmed SPTBN2 mutation

How to Prepare and What to Expect

No special preparation is needed before this test. The steps below outline what to bring, what to avoid, and what will happen on the day of collection.

Do You Need to Fast?

No fasting is required. You can eat and drink normally before giving your blood sample. There are no dietary restrictions for this test.

Practical Tips Before Your Test

Keep the following points in mind before attending your appointment:

Bring a detailed clinical history report, including your symptoms, previous test results, and family history, as this is required for the test
If you have had a packed cell or platelet transfusion recently, wait at least 2 weeks before sample collection
If you have had a whole blood transfusion, wait at least 4 weeks before sample collection
Inform your doctor about any previous bone marrow or haematopoietic stem cell transplant from a donor, as this can affect results
Pre-test and post-test genetic counselling is strongly recommended to help you understand the implications of the results
Wear a short-sleeved or loose-fitting top for easy access to your arm

Step-by-Step Procedure

Here is what to expect during the sample collection process:

A trained phlebotomist will clean the collection site on your arm with an antiseptic wipe.
A small amount of whole blood (2 ml) is drawn using a sterile needle and collected in a lavender-top EDTA tube.
The sample is labelled with your name, date, and other identifying details.
The tube is stored at 2 to 8 degrees Celsius and dispatched to the laboratory.
At the lab, DNA is extracted from your blood sample and analysed using the MLPA method.
Results are prepared and delivered within 15 days.

Factors That Can Affect Accuracy

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

Recent blood transfusions (packed cells, platelets, or whole blood)
History of allogeneic haematopoietic stem cell transplant (donor bone marrow transplant), which introduces donor DNA
Haematological malignancies (blood cancers)
Improper sample storage or handling during transport
Insufficient sample volume

Understanding Your SCA-5 Spinocerebellar Ataxia Type 5, SPTBN2 Gene Mutation Results

This is a qualitative genetic test. Results are reported as the presence or absence of a pathogenic mutation, not as numbers. A qualified doctor or genetic counsellor should always review and explain your results in the context of your symptoms and family history.

Result	Interpretation
No pathogenic variant detected	No harmful change found in the SPTBN2 gene; SCA5 is unlikely based on this gene
Pathogenic or likely pathogenic variant detected	A harmful SPTBN2 change has been identified; consistent with SCA5 (single copy) or SCAR14 (two copies)
Variant of Uncertain Significance (VUS)	A change has been found, but its clinical significance is currently unclear; follow-up may be recommended
Likely benign or benign variant	A change was identified, but is not considered disease-causing

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.

Results During Special Conditions

Recent blood transfusions or a prior allogeneic stem cell transplant can introduce donor DNA into the sample. This may affect the reliability of your result. Inform your doctor about any such history before the test is performed.

How to Maintain Healthy Levels

Because this is a genetic test, results cannot be changed through lifestyle measures. The following general tips may help support overall well-being if you or a family member has received a diagnosis:

Work closely with a neurologist to manage movement and coordination symptoms through physical therapy and occupational therapy
Attend regular follow-up appointments with a neurologist for symptom monitoring and support
Consider connecting with a genetic counsellor for family planning guidance, particularly regarding the 50% risk of passing an autosomal dominant mutation to children

Lupin Diagnostics SCA-5 Spinocerebellar Ataxia Type 5, SPTBN2 Gene Mutation Price and Home Collection

The SCA-5 Spinocerebellar Ataxia Type 5, SPTBN2 Gene mutation test is available at Lupin Diagnostics starting at ₹6,600, with home sample collection available across multiple 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

Select the SCA-5 Spinocerebellar Ataxia Type 5, SPTBN2 Gene mutation 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 SPTBN2 Gene mutation test home collection across cities, carried out by trained and certified phlebotomists. All samples are processed in NABL-accredited laboratories to ensure accurate and reliable results. Your digital report will be delivered to you directly via email or WhatsApp.

Frequently Asked Questions

SCA5 is an inherited condition that causes slow, progressive degeneration of the cerebellum, the part of the brain responsible for balance and coordination. It is considered a milder form of spinocerebellar ataxia with a gradual course. The condition is caused by a harmful change in the SPTBN2 gene.

This test is recommended for individuals who have symptoms of progressive cerebellar ataxia, such as unsteady walking or slurred speech, as well as those with a known family history of SCA5. It can also be used for predictive testing in at-risk family members who do not yet show symptoms.

SCA5 follows an autosomal dominant inheritance pattern, meaning only one copy of the mutated SPTBN2 gene (inherited from one parent) is enough to cause the condition. Each child of an affected parent has a 50% chance of inheriting the mutation.

The average age at which symptoms begin is around 33 years, though onset has been reported as early as 6 years and as late as 68 years. The age of onset can vary even within the same family.

No. The test requires only a routine blood draw. A phlebotomist collects a small blood sample from your arm using a sterile needle. The process is quick and causes only minimal, brief discomfort.

Prenatal testing is possible for families where a known SPTBN2 mutation has already been confirmed. However, this is not a routine pregnancy screening test. Couples with a family history of SCA5 should speak with a genetic counsellor to explore prenatal options.

If a harmful variant is detected, your doctor will refer you to a neurologist and a genetic counsellor. The counsellor will discuss what the result means for you and your family, including the possibility of passing the mutation to your children. Supportive therapies such as physiotherapy can be explored to help manage symptoms.