BSCL2 Gene SPG17 NGS Genetic Test
Short Name: BSCL2 SPG17 NGS
Also known as: BSCL2 Mutation Analysis, SPG17 Genetic Test, Hereditary Spastic Paraplegia 17 NGS Test
BSCL2 Gene SPG17 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 3 to 4 weeks from the date of sample receipt.. 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 pathogenic or likely pathogenic variants in the BSCL2 gene in symptomatic individuals, thereby supporting the clinical diagnosis of SPG17 and enabling informed genetic counselling.
- Test Code
- 4524
- ICD Code
- G11.4
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
A genetic counselling session is recommended before the test to draw a pedigree chart of family members affected with BSCL2 gene/SPG17 disease. The clinical history of the patient should be shared with the laboratory or referring clinician.
Method: Peripheral blood collection or FTA card blood spot
Laboratory Analysis
A blood sample is collected or a single drop of blood is placed on an FTA card. The procedure is quick and does not require fasting.
Report Delivery
No special precautions are required. The collected sample is transported to the laboratory at ambient temperature, and the patient can resume normal activities.
Timeline: 3 to 4 weeks from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the BSCL2 gene in symptomatic individuals, thereby supporting the clinical diagnosis of SPG17 and enabling informed genetic counselling.
How to Prepare
- No fasting is required for this test.
- Blood sample should be collected in an EDTA tube.
- For FTA card, apply one drop of blood to the marked area and air-dry it.
- The test requisition form and patient identification must accompany the sample.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for SPG17 should be interpreted with the help of a specialist. A neurological examination, family history and genetic counselling are essential before and after testing."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Improperly labelled or unlabelled sample
- Clotted blood sample
- Sample received in the wrong container
- FTA card with insufficient or contaminated blood
- Leaked or damaged sample packaging
Understanding Your Results
Pathogenic or likely pathogenic variant detected
Supports the clinical diagnosis of SPG17; genetic counselling and family testing can be discussed with the treating physician.
Variant of uncertain significance (VUS) identified
Further segregation studies and clinical correlation are required before making a definitive diagnosis.
No pathogenic variant detected
Reduces the likelihood of BSCL2-related SPG17; however, other genetic and neurological causes should still be considered.
If you or a family member have progressive leg stiffness, weakness, balance problems, difficulty walking, or unexplained bladder/bowel symptoms, consult a neurologist or a clinical genetics specialist.
Limitations
- ⚠NGS may not detect all large deletions, duplications, structural rearrangements, deep intronic mutations or repeat expansions.
- ⚠A negative result does not exclude all causes of hereditary spastic paraplegia.
- ⚠Results should be interpreted in the context of clinical findings and family history.
Risks & Considerations
- ●Mild pain or bruising at the blood collection site
- ●Very low risk of local infection, as with any routine blood draw
Interfering Factors
- ●No known dietary interference.
- ●Recent allogeneic stem cell transplantation can affect blood-based genetic test results.
- ●Incorrect patient identification or sample labelling can make results invalid.
Frequently Asked Questions
What is the BSCL2 Gene SPG17 NGS Genetic Test?
What is SPG17?
What are the common symptoms of SPG17?
Which sample can be used for this test?
Is fasting required before the test?
How long does it take to get results?
What does a positive test result mean?
What if the result is negative?
Who should consider this genetic test?
What is the cost of the test?
Does DNA Labs India provide home sample collection?
Is genetic counselling needed before the test?
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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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