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ENTPD1 Gene SPG64 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ENTPD1 Gene SPG64 NGS Genetic Test

Short Name: ENTPD1 Gene SPG64 Test

Also known as: SPG64, Hereditary Spastic Paraplegia 64, ENTPD1 Gene Test

ENTPD1 Gene SPG64 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

Diagnostic🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To diagnose Hereditary Spastic Paraplegia 64 by detecting mutations in the ENTPD1 gene, aiding in clinical management and genetic counseling.

Test Code
1815
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
NGS Technology
Step 1

Sample Collection

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

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm using standard venipuncture procedure.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities unless advised otherwise.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Undergo genetic counseling to discuss test purpose, implications, and family history. Provide informed consent.
2
During the Test:Sample collection as per standard blood draw procedure, with minimal discomfort.
3
After the Test:Wait for results; follow-up genetic counseling may be scheduled to discuss findings and next steps.

About This Test

Who Should Get This Test

To diagnose Hereditary Spastic Paraplegia 64 by detecting mutations in the ENTPD1 gene, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper identification and test order form
  • Avoid strenuous activity immediately after blood draw
  • Store samples as per laboratory guidelines if not collected at home

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"This genetic test is crucial for confirming HSP diagnosis, guiding treatment decisions, and informing family planning through accurate mutation detection in the ENTPD1 gene."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood samples should be processed within 24 hours of collection
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the ENTPD1 gene associated with SPG64. Genetic counseling is advised for interpretation.
📊

Negative

No pathogenic variants detected in the ENTPD1 gene; HSP due to this gene is unlikely, but other causes may be considered.

📊

Positive

Pathogenic variant(s) detected; confirms diagnosis of SPG64, guiding treatment and family screening.

📊

Variant of Uncertain Significance (VUS)

Genetic change found with unclear clinical impact; requires further evaluation and monitoring.

⚠️ When to Consult a Doctor:

Consult a neurologist or genetic specialist if symptoms persist, worsen, or if genetic counseling is needed based on test results.

Limitations

  • ⚠May not detect all types of mutations or variants of uncertain significance
  • ⚠Results require correlation with clinical findings and family history
  • ⚠Not a standalone diagnostic tool; part of comprehensive evaluation

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results, including anxiety or stress
  • ●Potential for incidental findings unrelated to HSP

Interfering Factors

  • ●Sample contamination or degradation
  • ●Technical errors in sequencing

Compare With Similar Tests

TestENTPD1 Gene SPG64 NGS Genetic TestSPG4 Genetic TestSPG3A Genetic TestHSP Comprehensive Gene PanelNeurological Examination
ComparisonENTPD1 Gene SPG64 NGS Genetic TestDetects mutations in the SPAST gene for SPG4 subtype of HSP, common in autosomal dominant cases.Identifies mutations in the ATL1 gene for SPG3A subtype, often early-onset HSP.Tests multiple genes associated with HSP for broader diagnostic coverage.Clinical assessment to evaluate symptoms and rule out other neurological conditions.

Frequently Asked Questions

What is the ENTPD1 Gene SPG64 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the ENTPD1 gene, associated with Hereditary Spastic Paraplegia 64 (SPG64).
What are the symptoms of Hereditary Spastic Paraplegia (HSP)?
Common symptoms include progressive leg stiffness, weakness, difficulty walking, loss of muscle tone, and balance issues. Symptoms vary in severity.
How is HSP diagnosed?
Diagnosis involves physical examination, medical history, and genetic testing such as the ENTPD1 Gene SPG64 NGS Genetic Test to confirm mutations.
What is the cost of the test?
The cost in India is approximately INR 20,000, with free home sample collection available across many cities.
Is home sample collection available?
Yes, free home collection is offered for online bookings in numerous cities across India for added convenience.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What does a positive result mean?
A positive result indicates pathogenic mutations in the ENTPD1 gene, confirming a diagnosis of SPG64 and guiding treatment and family screening.
What does a negative result mean?
A negative result means no pathogenic variants were detected, making HSP due to ENTPD1 unlikely, but other causes should be explored.
Is the test accurate?
Yes, NGS technology provides high accuracy for detecting genetic mutations, though results must be interpreted by healthcare professionals.
Can this test be used for family planning?
Yes, genetic testing results can inform family planning decisions and genetic counseling for at-risk family members.
What should I do if I have a family history of HSP?
Consider genetic testing and counseling to assess risk, confirm diagnosis, and discuss management options.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but psychological impacts of results should be considered; genetic counseling is recommended.
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

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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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