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DNA Labs India

REEP2 Gene SPG72 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

REEP2 Gene SPG72 NGS Genetic Test

Short Name: REEP2 Gene SPG72 NGS Test

Also known as: SPG72 Genetic Test, REEP2 Mutation Analysis

REEP2 Gene SPG72 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 sample receipt. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect mutations in the REEP2 gene that cause Hereditary Spastic Paraplegia, enabling early diagnosis, personalized management, and genetic counseling for affected individuals and families.

Test Code
1824
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling session recommended to discuss family history and test implications. No specific preparation required.

Method: Venipuncture or blood drop on FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or blood drop on FTA card by a trained professional.

Step 3

Report Delivery

Sample processed in lab; results delivered in 3-4 weeks. Genetic counseling provided post-test.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Undergo genetic counseling to understand the test purpose and implications.
2
During the Test:Simple blood draw or sample collection; minimal discomfort.
3
After the Test:Receive results with counseling; discuss management options with your doctor.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the REEP2 gene that cause Hereditary Spastic Paraplegia, enabling early diagnosis, personalized management, and genetic counseling for affected individuals and families.

How to Prepare

  • Use sterile collection tubes
  • Label samples correctly with patient details
  • Transport at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This genetic test is crucial for families with a history of Hereditary Spastic Paraplegia, enabling early diagnosis and management to improve quality of life."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop on FTA card

Sample Stability

Blood: stable at 2-8°C for 7 days
DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed samples
  • Incorrectly labeled samples
  • Insufficient sample volume

Understanding Your Results

Results indicate whether pathogenic mutations in the REEP2 gene are detected, which can confirm a diagnosis of Hereditary Spastic Paraplegia.
Positive: Pathogenic variant detected – indicates HSP risk; consult geneticist for management.
Negative: No pathogenic variant detected – HSP less likely, but clinical evaluation needed.
Variant of Uncertain Significance: Further testing or family studies may be required.
⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist immediately if test is positive or if symptoms persist despite negative results.

Limitations

  • ⚠May not detect all genetic variants or mosaicism
  • ⚠Results should be correlated with clinical findings
  • ⚠Does not rule out other causes of HSP

Risks & Considerations

  • ●Minor bruising or infection at needle site
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Insufficient DNA quantity
  • ●Hemolyzed or degraded samples

Frequently Asked Questions

What is Hereditary Spastic Paraplegia (HSP)?
HSP is a group of inherited disorders causing progressive leg weakness and stiffness due to spinal cord nerve dysfunction.
How does the REEP2 Gene test diagnose HSP?
The test detects mutations in the REEP2 gene linked to SPG72, a type of HSP, using NGS technology for accurate diagnosis.
What are the symptoms indicating this test?
Symptoms include leg stiffness, walking difficulties, numbness, balance issues, muscle spasms, and urinary problems.
How is the sample collected?
A blood sample is collected via venipuncture or a blood drop on an FTA card, available at home or lab.
Is fasting required for this test?
No, fasting is not required for the REEP2 Gene SPG72 NGS Genetic Test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks from sample collection.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the REEP2 gene, suggesting a diagnosis of HSP; genetic counseling is recommended.
Can this test be done during pregnancy?
Consult with a geneticist or Ob-Gyn specialist to discuss implications and timing during pregnancy.
Is genetic counseling included?
Yes, DNA Labs India includes genetic counseling to help understand test results and implications.
What is the cost of the test?
The cost is INR 20,000, which includes the test, counseling, and home sample collection in select cities.
How accurate is this genetic test?
The test uses advanced NGS technology with high accuracy, but results should be correlated with clinical findings.
What should I do after receiving results?
Discuss results with your doctor or geneticist for appropriate management and family planning advice.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference 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.

LIMS Integration

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.

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