SPG21 Gene SPG21 NGS Genetic Test
Short Name: SPG21 NGS Test
Also known as: SPG21 Gene Sequencing, HSP21 Genetic Test, Mast Syndrome Genetic Test
SPG21 Gene SPG21 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. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to detect pathogenic variants in the SPG21 gene, which is associated with hereditary spastic paraplegia type 21. The test aids in confirming clinical diagnosis, guiding family planning, and enabling early therapeutic intervention.
- Test Code
- 4526
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
Confirm with the lab if any pre-test genetic counseling is required. Bring any prior clinical history and relevant imaging results. No fasting is needed.
Method: Peripheral blood draw or FTA card spot
Laboratory Analysis
A trained phlebotomist will collect a venous blood sample in an EDTA tube, or an FTA card spot will be prepared as per instructions.
Report Delivery
Resume normal activities immediately. The sample will be securely transported to our NGS laboratory for analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic variants in the SPG21 gene, which is associated with hereditary spastic paraplegia type 21. The test aids in confirming clinical diagnosis, guiding family planning, and enabling early therapeutic intervention.
How to Prepare
- For blood sample: 2-3 mL in EDTA vacutainer.
- For FTA card: One drop of blood from a finger prick can be applied to the designated paper card.
- If extracting DNA elsewhere, submit at least 1 µg of high-quality genomic DNA.
- Label the sample clearly with patient name, date of birth, and date of collection.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic counseling is recommended for individuals considering SPG21 testing to understand implications of results for the patient and family."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or improperly labeled samples.
- Inadequate quantity of DNA.
- Samples received beyond the stability time.
Understanding Your Results
Positive
A pathogenic or likely pathogenic variant was identified in the SPG21 gene. This confirms the diagnosis of SPG21-related hereditary spastic paraplegia. Genetic counseling is recommended.
Negative
No pathogenic variant was detected in the SPG21 gene. This does not exclude other genetic or non-genetic causes of the clinical presentation.
Variant of Uncertain Significance (VUS)
A genetic variant was found, but its clinical significance is not yet established. Additional family testing and functional studies may be recommended.
If you or a family member experience unexplained leg stiffness, gait disturbance, or have a known family history of hereditary spastic paraplegia, consult a neurologist or clinical geneticist.
Limitations
- ⚠This test detects single nucleotide variants and small insertions/deletions in the SPG21 gene. Large deletions/duplications (exon-level CNV) may not be detected with standard NGS analysis.
- ⚠Negative result does not rule out non-genetic causes of symptoms.
- ⚠Variant of uncertain significance (VUS) results require further analysis.
Risks & Considerations
- ●Bruising at phlebotomy site
- ●Dizziness or vasovagal reaction
- ●Rarely, infection (minimized by sterile technique)
Interfering Factors
- ●Maternal cell contamination in blood samples from pregnant women
- ●Pathogenic variants in alternative genes causing similar phenotype
- ●Technical limitations of NGS in certain GC-rich regions
Frequently Asked Questions
What is the SPG21 gene NGS genetic 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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