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SCA (Spinocerebellar Ataxia): Extended Profile Test

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SCA (Spinocerebellar Ataxia): Extended Profile Test

Short Name: SCA Extended Profile

Also known as: Spinocerebellar Ataxia Extended Profile, SCA Repeat Expansion Panel, SCA Genetic Panel

SCA (Spinocerebellar Ataxia): Extended Profile Test test available at DNA Labs India for ₹32,000. Uses PCR, Fragment Analysis on Whole blood samples. Results in Samples received by Tuesday 11:00 AM are generally reported by Saturday. The exact turnaround time may vary with logistics.. Free home collection in 300+ cities across India.

Genetic Test - Neurologic Disorder/Ataxia🏠 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

The purpose of the SCA Extended Profile Test is to identify pathogenic repeat expansions in genes that cause autosomal dominant spinocerebellar ataxias. The overlapping phenotype between SCA types makes DNA-based genotyping the most reliable method for classification. This test helps clinicians confirm a diagnosis, exclude other causes of cerebellar ataxia, and provide a basis for genetic counselling and reproductive planning.

Test Code
3628
Price
₹32,000
Sample Type
Whole blood
Result Time
Samples received by Tuesday 11:00 AM are generally reported by Saturday. The exact turnaround time may vary with logistics.
Fasting Required
No
Method
PCR, Fragment Analysis
Step 1

Sample Collection

No special preparation is required. Fasting is not needed for this DNA-based test. Please carry a duly filled Genomics Clinical Information Requisition Form (Form 20).

Method: Peripheral venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect approximately 4 mL of whole blood in a lavender top EDTA tube. The procedure is quick and routine.

Step 3

Report Delivery

The blood sample should be transported refrigerated to the laboratory. Do not freeze the sample. You will receive an email or WhatsApp notification when the report is ready.

Timeline: Samples received by Tuesday 11:00 AM are generally reported by Saturday. The exact turnaround time may vary with logistics.

Patient Instructions

1
Before the Test:No special preparation is required. Fasting is not needed for this DNA-based test. Please carry a duly filled Genomics Clinical Information Requisition Form (Form 20).
2
During the Test:A trained phlebotomist will collect approximately 4 mL of whole blood in a lavender top EDTA tube. The procedure is quick and routine.
3
After the Test:The blood sample should be transported refrigerated to the laboratory. Do not freeze the sample. You will receive an email or WhatsApp notification when the report is ready.

About This Test

Who Should Get This Test

The purpose of the SCA Extended Profile Test is to identify pathogenic repeat expansions in genes that cause autosomal dominant spinocerebellar ataxias. The overlapping phenotype between SCA types makes DNA-based genotyping the most reliable method for classification. This test helps clinicians confirm a diagnosis, exclude other causes of cerebellar ataxia, and provide a basis for genetic counselling and reproductive planning.

How to Prepare

  • Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
  • Use 4 mL (2 mL min.) whole blood in one lavender top (EDTA) tube.
  • Transport the sample refrigerated. DO NOT FREEZE.
  • Ensure the EDTA tube is properly labeled with patient details.

Doctor's Notes

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

"A genetic diagnosis in spinocerebellar ataxia is important for accurate prognosis, management of symptoms, and counselling of at-risk family members. I recommend genetic testing whenever the pattern of ataxia remains unexplained after a detailed neurological evaluation."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Room Temperature
Refrigerated (2-8°C)
Frozen
Sample Rejection Criteria:
  • Clotted or hemolyzed sample
  • Frozen sample
  • Incorrect tube
  • Missing or incorrectly filled requisition form
  • Improperly labeled specimen

Understanding Your Results

The SCA Extended Profile Test is a qualitative repeat expansion analysis. Results should be interpreted by a clinical geneticist in the context of clinical symptoms and family history.
If no pathogenic repeat expansion is detected in the analyzed genes, genetic testing does not identify a known SCA-causing variant in this panel. A normal result does not exclude all hereditary ataxias.
If a pathogenic expansion is detected in one of the genes, the result confirms the genetic diagnosis and helps define the SCA subtype.
If a variant of uncertain significance is identified, additional family segregation studies may be required.
⚠️ When to Consult a Doctor:

If you have unexplained balance or coordination problems, slurred speech, tremor, or a family history of SCA, consult a neurologist or clinical geneticist for evaluation and genetic counselling before and after testing.

Limitations

  • ⚠The extended profile covers known SCA repeat expansion loci, but does not represent a whole exome or whole genome analysis.
  • ⚠A negative result does not exclude all forms of hereditary ataxia.
  • ⚠Repeat sizes near cutoff thresholds may require further confirmation.
  • ⚠Clinical interpretation must be correlated with neurological findings and family history.

Risks & Considerations

  • ●Mild pain or bruising at the venepuncture site
  • ●Minimal bleeding
  • ●Infection (rare)
  • ●Fainting (vasovagal reaction)

Interfering Factors

  • ●Clotted sample due to inadequate mixing with EDTA
  • ●Sample received frozen
  • ●Severe hemolysis
  • ●DNA degradation due to prolonged storage
  • ●Incorrect patient identification or requisition form

Compare With Similar Tests

TestSCA (Spinocerebellar Ataxia): Extended Profile Test
ComparisonSCA (Spinocerebellar Ataxia): Extended Profile Test

Frequently Asked Questions

What is the SCA Extended Profile Test used for?
The SCA Extended Profile Test is a genetic study that looks for repeat expansions in genes associated with spinocerebellar ataxia and related hereditary ataxias, using PCR and fragment analysis.
How much does the SCA Extended Profile Test cost in India?
The test price at DNA Labs India is INR 32000. The cost may vary by facility and location.
Which sample is required for the SCA Extended Profile Test?
4 mL whole blood (2 mL minimum) in one lavender top EDTA tube is needed. The sample must be refrigerated and not frozen.
Is fasting required before this test?
No, fasting is not required for the SCA Extended Profile Test. It is a DNA-based test on blood.
How long will I get my report?
Samples received by Tuesday 11 AM are generally reported by Saturday. Turnaround time is typically 4-5 days.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in multiple cities across India.
Which conditions are covered in the extended profile?
The extended profile includes SCA1, SCA2, SCA3, SCA5, SCA6, SCA7, SCA8, SCA11, SCA12, SCA14, SCA17, SCA23, DRPLA and FXTAS.
Can a negative result rule out all ataxias?
No. A negative result only means no pathogenic repeat expansion was detected in the genes included in this panel. Hereditary ataxia can be caused by many other genes.
Who should take this test?
People with progressive balance and coordination problems, unexplained ataxia, a family history of SCA, or those needing genetic confirmation before counseling.
Do I need a doctor's requisition form?
Yes, a duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory for sample processing.
Will insurance cover the cost?
Insurance coverage depends on the policy, the clinical indication and the insurance provider. Pre-authorization is recommended.
Why choose the extended profile instead of a single SCA gene test?
Because the clinical features of SCA subtypes overlap, testing multiple genes in one panel improves diagnostic yield and is more cost-effective than sequential single-gene testing.
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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