AFG3L2 Gene Spastic ataxia type 5, autosomal recessive NGS Genetic Test
Short Name: AFG3L2 SPAX5 NGS
Also known as: AFG3L2 Gene Sequencing, SPAX5 Genetic Test, Autosomal Recessive Spastic Ataxia Type 5 NGS, AFG3L2 Mutation Analysis
AFG3L2 Gene Spastic ataxia type 5, autosomal recessive NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in Results are usually delivered within 3 to 4 weeks from the date the sample is received by 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 NGS genetic test is to identify disease-causing mutations in the AFG3L2 gene in individuals with clinical features suggestive of spastic ataxia type 5 (SPAX5). It helps confirm a suspected diagnosis, clarify the inheritance pattern for at-risk family members, and support informed family planning decisions.
- Test Code
- 4511
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- Results are usually delivered within 3 to 4 weeks from the date the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counseling session is recommended and is part of the pre-test process to draw a pedigree chart of family members affected with SPAX5.
Method: Venipuncture
Laboratory Analysis
A blood sample is drawn by a trained phlebotomist using a sterile needle. The procedure usually takes a few minutes and is generally safe.
Report Delivery
You can resume normal activities immediately after blood collection. The sample is transported to the laboratory for NGS analysis and the report is delivered within 3 to 4 weeks.
Timeline: Results are usually delivered within 3 to 4 weeks from the date the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify disease-causing mutations in the AFG3L2 gene in individuals with clinical features suggestive of spastic ataxia type 5 (SPAX5). It helps confirm a suspected diagnosis, clarify the inheritance pattern for at-risk family members, and support informed family planning decisions.
How to Prepare
- No fasting required
- Prior genetic counseling is recommended
- Blood sample to be collected in an EDTA tube
- Carry previous clinical reports, imaging findings, and family history details, if available
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for SPAX5 provides a reliable way to confirm a clinical diagnosis and supports informed reproductive counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Incorrectly labeled sample
- Incomplete test requisition form
- Sample without signed consent or genetic counseling documentation
Understanding Your Results
Pathogenic variant in AFG3L2
Confirms a diagnosis of spastic ataxia type 5 (SPAX5).
Likely pathogenic variant in AFG3L2
Strongly suggests SPAX5; additional familial or functional evidence may be helpful.
Variant of uncertain significance (VUS)
Not diagnostic; further genetic testing and family segregation studies may be required.
No pathogenic variant detected
Reduces the likelihood of SPAX5 but does not exclude it; other ataxia causes should be considered.
Consult your referring physician or a clinical geneticist if you or a family member has progressive gait difficulties, incoordination, spasticity, speech or swallowing problems, or a known family history of SPAX5.
Limitations
- ⚠This test evaluates only the AFG3L2 gene and may not detect other causes of ataxia.
- ⚠NGS may not reliably detect large deletions, duplications, or repeat expansions.
- ⚠Variants of uncertain significance may require additional family studies.
- ⚠A negative result does not exclude a genetic cause; further testing may be recommended.
Risks & Considerations
- ●Minor pain or bruising at the venipuncture site
- ●Rare chance of bleeding or infection
Interfering Factors
- ●Insufficient or degraded DNA from the blood sample
- ●Sample contamination during collection or processing
- ●Maternal cell contamination in blood samples
Frequently Asked Questions
What is the cost of the AFG3L2 gene spastic ataxia type 5 NGS genetic test?
What sample is needed for this test?
Do I need to fast before the test?
How long does it take to get results?
Is home sample collection available?
What is spastic ataxia type 5?
How is SPAX5 inherited?
What are the main symptoms of SPAX5?
What does the NGS test look for?
Who should consider this test?
Is genetic counseling needed before the test?
Can this test guide family planning decisions?
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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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