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SCA (Spinocerebellar Ataxia): Comprehensive Profile Test

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SCA (Spinocerebellar Ataxia): Comprehensive Profile Test

Short Name: SCA Comprehensive Profile

Also known as: Spinocerebellar Ataxia Comprehensive Genetic Profile, SCA Type 1, 2, 3, 6, 7 and 12 Profile Test, Autosomal Dominant Ataxia Repeat Expansion Analysis

SCA (Spinocerebellar Ataxia): Comprehensive Profile Test test available at DNA Labs India for ₹14,000. Uses PCR, Fragment Analysis on Whole Blood samples. Results in Report turnaround is typically 4-6 days after the sample is received. For samples received by Tuesday 11 am, reports are issued on Saturday.. Free home collection in 300+ cities across India.

Genetic TestingAll 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

The primary purpose of the SCA Comprehensive Profile is to provide a molecular diagnosis for patients with clinical suspicion of spinocerebellar ataxia and to differentiate among the most common autosomal dominant SCA subtypes caused by repeat expansions. It also supports predictive testing, genetic counseling, and reproductive risk assessment in families with a known SCA mutation.

Test Code
3630
Price
₹14,000
Sample Type
Whole Blood
Result Time
Report turnaround is typically 4-6 days after the sample is received. For samples received by Tuesday 11 am, reports are issued on Saturday.
Fasting Required
No
Method
PCR, Fragment Analysis
Step 1

Sample Collection

No fasting is required. Inform the laboratory about any stem cell transplant or blood transfusion in the past 3 months. Complete and sign the mandatory Genomics Clinical Information Requisition Form (Form 20) before sample collection.

Method: Venipuncture

Step 2

Laboratory Analysis

A phlebotomist will draw a small volume of blood from a vein in the arm using a sterile needle. The procedure usually takes about 5 minutes.

Step 3

Report Delivery

Apply pressure to the puncture site for 1-2 minutes. Avoid vigorous exercise for a short time. The blood sample will be shipped refrigerated to the laboratory.

Timeline: Report turnaround is typically 4-6 days after the sample is received. For samples received by Tuesday 11 am, reports are issued on Saturday.

Patient Instructions

1
Before the Test:No fasting is required. Complete the mandatory Genetic Counseling/Requisition form before sample collection. Inform the lab about a bone marrow transplant or recent blood transfusion.
2
During the Test:A blood sample is collected into an EDTA tube. You may feel a small needle prick. There is no sedation needed.
3
After the Test:You can resume normal activities immediately. The sample will be processed in the laboratory, and the report will be shared through your chosen mode.

About This Test

Who Should Get This Test

The primary purpose of the SCA Comprehensive Profile is to provide a molecular diagnosis for patients with clinical suspicion of spinocerebellar ataxia and to differentiate among the most common autosomal dominant SCA subtypes caused by repeat expansions. It also supports predictive testing, genetic counseling, and reproductive risk assessment in families with a known SCA mutation.

How to Prepare

  • Sample must be collected in a lavender-top (EDTA) tube.
  • Specimen volume should be at least 2 mL; ideally 4 mL.
  • Ship sample refrigerated in a cool pack; do not freeze.
  • Filled and signed Genomics Clinical Information Requisition Form (Form 20) must accompany the sample.
  • Clearly label the sample with patient name, UID, and date and time of collection.

Doctor's Notes

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

"When a woman is considering pregnancy and there is a known SCA mutation in the family, an Ob-Gyn can arrange genetic counseling and discuss preimplantation or prenatal testing options. This test result helps clarify reproductive risk only after confirmatory mutation testing has been performed in an affected relative."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood
Sample Volume4 mL (2 mL min.)
ContainerLavender top (EDTA) tube
Collection MethodVenipuncture

Sample Stability

Whole blood in EDTA6 hours
Whole blood in EDTA1 week
Whole blood in EDTANot acceptable
Sample Rejection Criteria:
  • Clotted or haemolysed sample
  • Frozen whole blood sample
  • Sample in wrong container
  • Incomplete, unfilled, or unsigned Form 20
  • Specimen without patient identification and date/time of collection

Understanding Your Results

This test examines selected repeat expansion regions in 6 genes associated with autosomal dominant spinocerebellar ataxias. Results should always be interpreted with clinical and family history and by a qualified genetics professional.
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⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you or a family member experience unexplained progressive clumsiness, falls, gait disturbance, dysarthria, swallowing problems, or abnormal eye movements. If a first-degree relative has a confirmed SCA genetic diagnosis, request genetic counseling before testing.

Limitations

  • ⚠This comprehensive profile covers 6 genes: SCA1, SCA2, SCA3, SCA6, SCA7 and SCA12.
  • ⚠It does not test SCA4, SCA5, SCA8, SCA10, SCA14, SCA17, DRPLA, Friedreich ataxia, or other inherited ataxias.
  • ⚠A negative result does not exclude all causes of hereditary or sporadic ataxia.
  • ⚠Repeat expansion testing may not detect point mutations, deletions, or duplications in these genes.

Risks & Considerations

  • ●Slight pain or bruising at the needle puncture site
  • ●Uncommon bleeding or haematoma
  • ●Rare vasovagal episode (light-headedness or fainting)

Interfering Factors

  • ●Bone marrow transplant can mix donor-derived DNA with recipient DNA.
  • ●Recent whole blood transfusion may affect cell-based DNA testing if collected before donor leukocyte clearance.
  • ●Samples that are frozen, clotted, or haemolysed may not be accepted.
  • ●Very rare genetic variants in primer-binding regions can theoretically cause allele dropout.

Compare With Similar Tests

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

Frequently Asked Questions

What is the SCA Comprehensive Profile Test?
This genetic test analyses repeat expansions in 6 genes: ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A and PPP2R2B, which correspond to SCA types 1, 2, 3, 7, 6, and 12. It helps diagnose autosomal dominant spinocerebellar ataxia and confirm the specific genetic subtype.
Who should take this test?
Individuals with symptoms of progressive ataxia such as unsteady gait, limb incoordination, slurred speech, swallowing difficulties, or tremor, and those with a family history of SCA. It is also useful for predictive testing in at-risk adult family members after appropriate genetic counseling.
What is the cost of the SCA Comprehensive Profile Test?
The price is Rs 14,000 (INR 14,000). Free home collection is available for online bookings in many cities across India.
What sample is required for the test?
4 mL of whole blood, with a minimum of 2 mL, collected in a lavender-top EDTA tube. The sample should be shipped refrigerated and should not be frozen.
Do I need to fast before the test?
No fasting is required for this genetic test. However, the mandatory Genomics Clinical Information Requisition Form (Form 20) must be completed and signed.
How long does it take to get the report?
The reporting schedule depends on the sample pickup. For example, a sample received by Tuesday 11 am is typically reported by Saturday. The turnaround is generally 4-6 days.
What genes are covered in the comprehensive profile?
The panel covers ATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), CACNA1A (SCA6), ATXN7 (SCA7) and PPP2R2B (SCA12).
Can this test tell me the exact SCA type?
Yes, by identifying the specific gene with an abnormal repeat expansion, the test can indicate the SCA subtype. If no abnormal expansion is detected, a negative result is given; this does not rule out all hereditary ataxias.
Is the test suitable for family planning?
A confirmed genetic diagnosis in an affected family member allows meaningful reproductive planning. Those considering prenatal or preimplantation genetic testing should speak with an obstetrician-geneticist and certified genetic counselor before testing.
What does a positive SCA test result mean?
A positive result means an abnormal repeat expansion is present in one of the six tested genes. This supports the clinical diagnosis of that particular SCA subtype and has implications for siblings and children.
What does a negative result mean?
A negative result indicates no pathogenic repeat expansion was detected in the six genes tested. It does not exclude SCA types not covered by this profile or other causes of ataxia.
Do I need genetic counseling after the test?
Yes, genetic counseling is strongly recommended before and after testing. A clinical geneticist or neurology team will explain the medical, psychological, and family consequences of the result.
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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