SPART Gene SPG20 NGS Genetic Test
Short Name: SPG20 NGS Genetic Test
Also known as: SPART gene sequencing, SPG20 gene NGS test, Troyer syndrome genetic test, Hereditary Spastic Paraplegia type 20 genetic test
SPART Gene SPG20 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood / Extracted DNA / One drop blood on FTA card samples. Results in Reports are available in 3 to 4 weeks after the sample reaches the laboratory. They will be shared via patient portal, email, and WhatsApp.. 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 the SPART Gene SPG20 NGS Genetic Test is to identify pathogenic variants in the SPG20 gene. It helps confirm or exclude SPG20 in individuals presenting with progressive neuromuscular symptoms, provides accurate recurrence risk information for families, and supports clinical management and reproductive planning.
- Test Code
- 4525
- CPT Code
- N/A
- ICD Code
- G11.4
- Price
- ₹20,000
- Sample Type
- Blood / Extracted DNA / One drop blood on FTA card
- Result Time
- Reports are available in 3 to 4 weeks after the sample reaches the laboratory. They will be shared via patient portal, email, and WhatsApp.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is required. Please carry any previous neurological or imaging reports and a clinical summary. A genetic counselling session will be arranged before sample collection to document family history and draw a pedigree chart.
Method: Peripheral venous blood collection / dried blood spot / DNA submission
Laboratory Analysis
A blood sample is collected by a trained phlebotomist into an EDTA vacutainer. Alternatively, the laboratory can accept extracted DNA or one drop of blood on an FTA card. The procedure is quick and causes minimal discomfort.
Report Delivery
You can resume routine activities immediately. The sample will be transported to the laboratory at room temperature. Reports are shared in 3 to 4 weeks through the patient portal, email, or WhatsApp.
Timeline: Reports are available in 3 to 4 weeks after the sample reaches the laboratory. They will be shared via patient portal, email, and WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the SPART Gene SPG20 NGS Genetic Test is to identify pathogenic variants in the SPG20 gene. It helps confirm or exclude SPG20 in individuals presenting with progressive neuromuscular symptoms, provides accurate recurrence risk information for families, and supports clinical management and reproductive planning.
How to Prepare
- Use an EDTA tube for whole blood collection
- FTA card must be clearly labelled with patient details
- Extracted DNA should be accompanied by quantity and quality information
- No fasting is required
- Provide clinical history and pedigree chart after genetic counselling
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"For families with a child affected by SPG20, reproductive genetic counselling and carrier testing can help clarify recurrence risk. This NGS test provides a genetic basis for diagnosis and supports informed family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Quantity not sufficient for testing
- Improperly labelled or unlabelled sample
- Sample received without consent or counselling documentation
Understanding Your Results
Biallelic pathogenic variants detected
Consistent with autosomal recessive SPG20; clinical correlation required.
Single pathogenic variant detected
Indicates carrier status; carrier alone is not expected to cause SPG20.
Variant of uncertain significance detected
Clinical significance is unclear; family segregation and further testing are recommended.
No pathogenic variant detected
Does not exclude SPG20; other hereditary spastic paraplegia genes or alternative diagnoses should be considered.
Consult a clinical geneticist or neurologist if you or a family member has progressive muscle stiffness, weakness, walking difficulties, speech or swallowing problems, intellectual disability, seizures, vision problems, or a family history of hereditary spastic paraplegia.
Limitations
- ⚠This test does not detect large structural rearrangements, repeat expansions, or mitochondrial variants.
- ⚠Variants in promoter or deep intronic regions may not be identified.
- ⚠A negative result does not completely exclude SPG20 if clinical suspicion is very high.
- ⚠Variant classification may change over time as new evidence emerges.
Risks & Considerations
- ●Minimal discomfort or bruising at the blood collection site
- ●Possibility of discovering carrier status
- ●Possible psychological impact on family members
- ●Inconclusive result due to variant of uncertain significance
Interfering Factors
- ●Sample contamination
- ●Poor DNA quality or quantity
- ●Mosaicism
- ●Deep intronic or regulatory variants not covered by standard NGS
- ●Large deletions or duplications not detected by sequencing
Compare With Similar Tests
| Test | SPART Gene SPG20 NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | SPART Gene SPG20 NGS Genetic Test |
Frequently Asked Questions
What is the SPART Gene SPG20 NGS Genetic Test?
What condition is caused by SPG20 gene variants?
How is the SPART Gene SPG20 NGS Genetic Test performed?
Who should consider this genetic test?
Is SPG20 inherited in an autosomal recessive pattern?
Can this test be used for carrier screening?
What is the cost of the SPART Gene SPG20 NGS Genetic Test at DNA Labs India?
What is the turnaround time for this test?
What sample is needed and is fasting required?
What do the genetic test results mean?
Does DNA Labs India provide raw data with the report?
Do I need a doctor's prescription for this test?
Related Tests
Huntington Disease Mutation Detection Test
₹8,000Myotonic Dystrophy Type 1 Test
₹8,500Nx Gen Sequencing: Duchenne & Becker Muscular Dystrophy Test
₹23,400Nx Gen Sequencing: Tuberous Sclerosis Complex Test
₹27,495MED25 Gene CMT2B2 NGS Genetic Test
₹20,000FLNA Gene Intestinal pseudoobstraction, neuronal NGS Genetic Test
₹20,000Reference 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.