SPG11 Gene SPG11 NGS Genetic Test
Short Name: SPG11 NGS Genetic Test
Also known as: SPG11 Gene Sequencing, Hereditary Spastic Paraplegia Genetic Test, Spatacsin Gene NGS Test
SPG11 Gene SPG11 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing, Sanger Validation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are issued within 3 to 4 weeks from sample receipt. Urgent samples may be expedited on request with additional charges.. 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 detect pathogenic variants in the SPG11 gene, confirming the clinical diagnosis of hereditary spastic paraplegia type 11. It also helps identify carriers in at-risk families, enabling reproductive planning and prenatal diagnosis where applicable.
- Test Code
- 4512
- CPT Code
- 81408
- ICD Code
- G11.4
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued within 3 to 4 weeks from sample receipt. Urgent samples may be expedited on request with additional charges.
- Fasting Required
- No
- Method
- Next-Generation Sequencing, Sanger Validation
Sample Collection
No special preparation such as fasting is required. Please inform the laboratory of any prior blood transfusion or bone marrow transplant.
Method: Peripheral blood draw or buccal swab (FTA card)
Laboratory Analysis
At the time of blood collection, proper sterile technique will be followed. For FTA card samples, the blood spots will be air-dried and packed safely.
Report Delivery
The sample will be transported to the laboratory at ambient temperature. For DNA samples, ensure adequate concentration and volume as per lab instructions.
Timeline: Reports are issued within 3 to 4 weeks from sample receipt. Urgent samples may be expedited on request with additional charges.
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic variants in the SPG11 gene, confirming the clinical diagnosis of hereditary spastic paraplegia type 11. It also helps identify carriers in at-risk families, enabling reproductive planning and prenatal diagnosis where applicable.
How to Prepare
- EDTA blood sample must be collected in a sterile vacuum tube
- Minimum blood volume: 2 mL
- If sending extracted DNA, quality and quantity must be verified by the lab
- FTA card sample: prepare at least 2 blood spots of adequate size, air-dried completely
- Label the sample clearly with patient name and unique ID
- Ship at ambient temperature (not frozen) unless otherwise instructed
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for SPG11 is essential for accurate diagnosis of hereditary spastic paraplegia. Early identification allows for proactive management and informed reproductive decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Samples with no labelling or mismatched requisition form
- Haemolysed blood samples
- Clotted blood (for EDTA tube)
- Samples received after 7 days from collection (for EDTA blood)
- Insufficient DNA quantity (<1 µg) for sequencing
- Samples from recent blood transfusion recipient without documented donor DNA removal
Understanding Your Results
Confirms diagnosis of SPG11-HSP. Suggests autosomal recessive inheritance; both alleles are usually mutated. Prenatal testing possible for family.
Action: Refer to neurologist for supportive management; genetic counselling for family members and reproductive options.
Result type: Positive (Pathogenic variant found)
No disease-causing variant identified in SPG11 gene; does not exclude HSP caused by other genes or non-genetic causes.
Action: Consider broader HSP gene panel if clinical suspicion remains high.
Result type: Negative (No pathogenic variant found)
A genetic variant was found, but its association with the disease is unclear. Family co-segregation and functional studies may help clarify.
Action: Testing of parents/affected siblings is recommended to assess co-segregation.
Result type: Variant of Uncertain Significance (VUS)
Consult a neurologist or medical geneticist if you or a family member experience progressive stiffness and weakness in legs, walking difficulty, or have a known family history of hereditary spastic paraplegia. Genetic counselling before testing is strongly advised.
Limitations
- ⚠This test detects mutations only in the SPG11 gene; other genes causing HSP are not analysed
- ⚠The test cannot predict symptom severity or age of onset
- ⚠Structural rearrangements or large deletions may not be detected by NGS alone
- ⚠Genetic variants of uncertain significance (VUS) may be reported; further family testing may be required
- ⚠Raw data is provided, but bioinformatics interpretation is limited to clinically validated pipeline
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood collection site
- ●Psychological impact of genetic test results, especially before symptom onset
- ●Risk of incidental findings not related to SPG11 (pre-test counselling recommended)
Interfering Factors
- ●Blood transfusion within 3 weeks prior to testing may lead to donor DNA contamination
- ●Bone marrow transplantation (chimerism) reduces the accuracy of genetic testing on blood
- ●Poor DNA quality or quantity may cause sequencing failures
- ●Large deletional rearrangements may not be detected by standard NGS panel
- ●Variants in non-coding regulatory regions may not be captured
Compare With Similar Tests
| Test | SPG11 Gene SPG11 NGS Genetic Test | SPG11 Gene Sanger Sequencing | Hereditary Spastic Paraplegia NGS Panel |
|---|---|---|---|
| Comparison | SPG11 Gene SPG11 NGS Genetic Test |
Frequently Asked Questions
What is the SPG11 gene NGS genetic test?
When is this test recommended?
What is the cost of the SPG11 gene test at DNA Labs India?
What type of sample is required?
Is fasting required before the test?
How long does the test take to report?
Will I get raw data files?
Can this test detect all forms of hereditary spastic paraplegia?
How are genetic test results interpreted?
Is this test suitable for prenatal diagnosis?
Does DNA Labs India offer genetic counselling?
Are there any hidden charges for home sample collection?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference Laboratory Services
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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.