REEP1 Gene SPG31 NGS Genetic Test
Short Name: REEP1 SPG31 NGS
Also known as: REEP1-associated hereditary spastic paraplegia, SPG31 genetic test, REEP1 NGS genetic test
REEP1 Gene SPG31 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 receipt of the sample at 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
To detect pathogenic variants in the REEP1 gene and confirm a clinical diagnosis of hereditary spastic paraplegia type 31 (SPG31), especially in patients with suggestive neurological symptoms or a positive family history.
- Test Code
- 4545
- 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 receipt of the sample at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counselling session is recommended before testing to draw a family pedigree and explain the implications of genetic results.
Method: Venipuncture / FTA card blood spot / extracted DNA submission
Laboratory Analysis
A trained professional will collect a blood sample. If using an FTA card, one drop of blood is placed on the card. For extracted DNA samples, the submitted DNA is processed directly.
Report Delivery
You may resume normal activities immediately. The sample will be transported to the laboratory for processing and the report will be shared in the specified turnaround time.
Timeline: 3 to 4 weeks from receipt of the sample at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic variants in the REEP1 gene and confirm a clinical diagnosis of hereditary spastic paraplegia type 31 (SPG31), especially in patients with suggestive neurological symptoms or a positive family history.
How to Prepare
- No fasting is required for this test.
- If giving blood, wear clothing with short sleeves for easy access.
- For FTA card samples, apply one drop of blood to each indicated circle and air-dry completely.
- For extracted DNA, ensure the tube is clearly labelled with the patient's name, date of birth, and collection date.
- Please bring any previous neurological evaluation records or family history documents if available.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A targeted genetic answer is often invaluable in hereditary spastic paraplegia. Once a REEP1 pathogenic variant is identified, the family can receive clear recurrence risk information, and at-risk relatives can make informed decisions about symptoms, surveillance, and reproductive planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolysed or clotted blood sample
- Insufficient sample volume
- Missing or mismatched patient identification
- FTA card not dried or improperly stored
- Extracted DNA that does not meet laboratory quality criteria
Understanding Your Results
Pathogenic or likely pathogenic variant detected
Molecularly confirms a diagnosis of SPG31. Genetic counselling and testing of at-risk family members are recommended.
No pathogenic variant detected
SPG31 is less likely. Other HSP genes or non-genetic causes may need to be considered based on clinical symptoms and family history.
Variant of uncertain significance (VUS)
The clinical significance is currently unclear. Family segregation studies and further genetic evaluation may help clarify the result.
Consult a neurologist or clinical geneticist if you or a family member experiences progressive stiffness or weakness in the legs, difficulties with balance and walking, urinary urgency with no clear cause, or has a known family history of hereditary spastic paraplegia.
Limitations
- ⚠NGS may not detect all types of mutations such as large structural rearrangements, deep intronic variants, or repeat expansions.
- ⚠A negative result does not exclude other hereditary spastic paraplegia genes or non-genetic causes.
- ⚠Variants of uncertain significance may require additional family testing to clarify their clinical importance.
- ⚠The test should be interpreted in the context of clinical findings and family history by a qualified genetics professional.
Risks & Considerations
- ●Low risk of minor bleeding, bruising, or infection at the blood collection site.
- ●Possible emotional or psychological impact of receiving a genetic result.
- ●Discovery of unexpected family relationship or genetic risk information.
Interfering Factors
- ●Inadequate DNA quality or quantity
- ●Sample degradation due to transport delay
- ●Contamination during sample collection
- ●Improper labelling or handling
- ●Incomplete clinical history or family pedigree
Compare With Similar Tests
| Test | REEP1 Gene SPG31 NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | REEP1 Gene SPG31 NGS Genetic Test |
Frequently Asked Questions
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