SCA (Spinocerebellar Ataxia) Profile: Any 4 Markers Test
Short Name: SCA Profile Any 4 Markers
Also known as: Spinocerebellar Ataxia Profile, SCA Genetic Profile - Any 4 Markers
SCA (Spinocerebellar Ataxia) Profile: Any 4 Markers Test test available at DNA Labs India for ₹10,000. Uses PCR, Fragment Analysis on Whole Blood samples. Results in Usually within two weeks. For scheduled batches, samples received by Tuesday 11 am are reported on Saturday.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of the SCA Profile Any 4 Markers Test is to detect pathogenic repeat expansions in selected SCA-related genes, confirm a molecular diagnosis in symptomatic individuals, and provide information for family counselling and risk assessment.
- Test Code
- 3627
- Price
- ₹10,000
- Sample Type
- Whole Blood
- Result Time
- Usually within two weeks. For scheduled batches, samples received by Tuesday 11 am are reported on Saturday.
- Fasting Required
- No
- Method
- PCR, Fragment Analysis
Sample Collection
No fasting is required. Ensure that the Genomics Clinical Information Requisition Form (Form 20) is duly filled and signed before sample collection. Carry any previous clinical or genetic reports for reference.
Method: Venepuncture
Laboratory Analysis
A trained phlebotomist will collect approximately 4 mL of venous blood in a lavender top EDTA tube. The tube should be gently inverted to mix with the anticoagulant and prevent clotting.
Report Delivery
Keep the sample refrigerated at 2-8°C immediately after collection and transport it to the laboratory in a cold pack. Do not freeze the sample. The report will be shared online after processing.
Timeline: Usually within two weeks. For scheduled batches, samples received by Tuesday 11 am are reported on Saturday.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the SCA Profile Any 4 Markers Test is to detect pathogenic repeat expansions in selected SCA-related genes, confirm a molecular diagnosis in symptomatic individuals, and provide information for family counselling and risk assessment.
How to Prepare
- Collect 4 mL whole blood in a lavender top EDTA tube; minimum 2 mL acceptable.
- Do not freeze the sample; refrigerate at 2-8°C during transport.
- Complete and attach the Genomics Clinical Information Requisition Form (Form 20).
- Samples should reach the laboratory by Tuesday 11 am for Saturday reporting.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"For individuals with progressive ataxia or an SCA family history, genetic confirmation simplifies prognosis, surveillance and family counselling. A multidisciplinary approach involving clinical genetics, neurology and obstetrics-gynaecology helps in accurate reproductive planning and cascade testing."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Frozen or haemolysed sample
- Clotted blood in EDTA tube
- Insufficient sample volume (< 2 mL)
- Missing or incomplete Form 20
- Incorrect tube or anticoagulant
Understanding Your Results
No pathogenic repeat expansion detected
Negative for selected SCA markers tested; does not exclude all SCA subtypes or other causes of ataxia.
Recommendation: Discuss with a neurologist; consider a broader ataxia panel if symptoms persist.
Pathogenic repeat expansion detected
Positive molecular result suggesting the corresponding SCA subtype.
Recommendation: Genetic counselling and cascade testing of at-risk family members are advised.
Uncertain result or borderline expansion
Repeat size may fall in a grey zone or variant of uncertain significance.
Recommendation: Review by a clinical geneticist; additional familial or segregation studies may be needed.
Consult your treating neurologist or a genetic counsellor if you or a family member have symptoms of ataxia, a known SCA family mutation, or if this test report shows a pathogenic expansion.
Limitations
- ⚠This test covers only selected SCA markers and not all known SCA subtypes.
- ⚠A negative result does not exclude SCA caused by genes not included in the selected panel.
- ⚠Results should be interpreted in the context of clinical symptoms and family history.
- ⚠Predictive testing in at-risk individuals requires genetic counselling and informed consent.
Risks & Considerations
- ●Slight pain or discomfort during venepuncture
- ●Small bruise or haematoma at the puncture site
- ●Very rare risk of infection or bleeding
Interfering Factors
- ●Poor DNA quality from clotted or frozen samples
- ●Sample degradation due to prolonged transport at room temperature
- ●Incorrect marker selection not matching the clinical phenotype
- ●Mislabelling or incomplete patient identification
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