SACS Gene Spastic ataxia Charlevoix-Saguenay type NGS Genetic Test
Short Name: SACS Gene NGS Test
Also known as: ARSACS Genetic Test, Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay NGS Test, SACS Gene Sequencing
SACS Gene Spastic ataxia Charlevoix-Saguenay type NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are generally issued in 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify or exclude pathogenic variants in the SACS gene, confirm a clinical suspicion of ARSACS, and provide a molecular basis for genetic counselling and family management.
- Test Code
- 4516
- ICD Code
- G11.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally issued in 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. A doctor's referral or genetic counselling session is recommended before testing. Inform the laboratory if you have had a blood transfusion or bone marrow transplant, as this can affect DNA analysis.
Method: Peripheral blood draw / dried blood spot on FTA card
Laboratory Analysis
A small blood sample will be collected by a trained phlebotomist. If using an FTA card, one drop of blood will be applied and allowed to dry. The process is quick and minimally painful.
Report Delivery
You may resume normal activities immediately after sample collection. No special precautions or restrictions are required.
Timeline: Reports are generally issued in 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify or exclude pathogenic variants in the SACS gene, confirm a clinical suspicion of ARSACS, and provide a molecular basis for genetic counselling and family management.
How to Prepare
- Blood should be collected in an EDTA vacutainer if whole blood is being sent.
- For FTA card, apply one drop of blood and allow the card to air dry completely.
- Label the sample with patient name, date of birth, collection date, and unique identification number.
- Sample should be transported at ambient temperature in the provided collection kit.
- A valid test request form and consent must accompany the sample.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A detailed neurological evaluation should be performed to exclude acquired causes of ataxia before SACS genetic testing. NGS-based genetic testing is most useful when hereditary ataxia is clinically suspected and should be accompanied by pre-test genetic counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Heparinized sample unless specifically validated
- Mislabeled or unlabeled sample
- Leaking or broken sample container
- Insufficient DNA concentration for NGS analysis
Understanding Your Results
Pathogenic or likely pathogenic variant detected in the SACS gene.
Action: Genetic counselling, family segregation testing, and symptom management should be offered.
Status: Positive
No clinically significant SACS gene variant detected.
Action: Reassess clinical diagnosis and consider a broader hereditary ataxia panel or whole exome sequencing.
Status: Negative
Variant(s) of uncertain significance identified in the SACS gene.
Action: Further family studies, segregation analysis, or functional studies may be recommended.
Status: VUS
If you or a family member have progressive balance problems, muscle stiffness, speech difficulties, or visual problems, consult a neurologist or clinical geneticist. Genetic testing should be ordered only after clinical assessment and pre-test counselling.
Limitations
- ⚠NGS may not detect large deletions or duplications unless specifically requested
- ⚠Deep intronic variants and repeat expansions may not be detected by this test
- ⚠Variants of uncertain significance may require additional family studies
- ⚠A negative result does not exclude all genetic causes of ataxia
Risks & Considerations
- ●No significant risks are associated with blood collection
- ●Mild bruising or discomfort at the venipuncture site
- ●Rare risk of dizziness or vasovagal reaction during blood draw
Interfering Factors
- ●Low DNA quantity or quality
- ●Contamination during sample collection or processing
- ●Incorrect sample labeling
- ●Unsuitable transport or storage conditions
- ●Previously received bone marrow transplant may affect DNA results
Compare With Similar Tests
| Test | SACS Gene Spastic ataxia Charlevoix-Saguenay type NGS Genetic Test | ||
|---|---|---|---|
| Comparison | SACS Gene Spastic ataxia Charlevoix-Saguenay type NGS Genetic Test |
Frequently Asked Questions
What is the cost of the SACS gene NGS genetic test?
What is SACS gene spastic ataxia Charlevoix-Saguenay type?
What sample is needed for this NGS genetic test?
Do I need to fast before the SACS gene test?
How long does it take to get the SACS test report?
Will I receive raw data files with the report?
Who should consider this SACS gene NGS test?
Can this test detect if I am a carrier of SACS?
Is genetic counselling available with this test?
What does a negative result mean?
Is home sample collection available for this test?
How should I interpret a variant of uncertain significance (VUS)?
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