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AMPD2 Gene SPG63 NGS Genetic Test

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AMPD2 Gene SPG63 NGS Genetic Test

Short Name: AMPD2 Gene SPG63 Test

Also known as: Hereditary Spastic Paraplegia Type 63, SPG63, AMPD2-related HSP

AMPD2 Gene SPG63 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. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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

To diagnose Hereditary Spastic Paraplegia Type 63 (SPG63) by detecting pathogenic mutations in the AMPD2 gene using Next Generation Sequencing technology.

Test Code
1821
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
NGS Technology
Step 1

Sample Collection

Obtain clinical history of the patient and conduct a genetic counseling session to draw a pedigree chart of family members affected with SPG63 or related disorders.

Method: Blood draw or FTA card collection

Step 2

Laboratory Analysis

Standard blood draw procedure using a sterile needle and syringe, or collection of a blood drop on an FTA card.

Step 3

Report Delivery

Label the sample correctly and transport to the laboratory under appropriate conditions for DNA extraction and analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended prior to testing.
2
During the Test:Sample collection involves a simple blood draw or FTA card procedure.
3
After the Test:Results are typically available in 3-4 weeks; genetic counseling is advised for result interpretation.

About This Test

Who Should Get This Test

To diagnose Hereditary Spastic Paraplegia Type 63 (SPG63) by detecting pathogenic mutations in the AMPD2 gene using Next Generation Sequencing technology.

How to Prepare

  • Fasting is not required for this test
  • Collect blood sample in an EDTA tube or use an FTA card for one drop blood
  • Ensure proper labeling with patient details and test information
  • Handle sample carefully to avoid contamination or degradation

Doctor's Notes

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

"This test is essential for confirming Hereditary Spastic Paraplegia diagnosis, allowing for personalized management and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or FTA card collection

Sample Stability

Blood: Stable for 24 hours at room temperature
Extracted DNA: Stable for several days when stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume for analysis
  • Improperly labeled or unlabeled sample
  • Sample contaminated or degraded

Understanding Your Results

Results indicate the presence or absence of mutations in the AMPD2 gene, which are associated with Hereditary Spastic Paraplegia Type 63.
Positive: Pathogenic mutation detected in the AMPD2 gene, consistent with SPG63 diagnosis
Negative: No pathogenic mutations detected; clinical correlation recommended
Variant of Uncertain Significance (VUS): Genetic variant identified but not conclusively linked to disease; further testing or family studies may be needed
⚠️ When to Consult a Doctor:

If you experience symptoms such as progressive leg stiffness, walking difficulties, or have a family history of Hereditary Spastic Paraplegia, consult a neurologist or geneticist for evaluation and possible testing.

Limitations

  • ⚠May not detect all types of genetic mutations, such as large deletions or duplications
  • ⚠Requires interpretation by a genetic counselor or specialist
  • ⚠Results should be correlated with clinical findings and family history

Risks & Considerations

  • ●Minor pain or bruising at the blood draw site
  • ●Rare risk of infection at the puncture site
  • ●Emotional impact of genetic testing results

Interfering Factors

  • ●Sample contamination during collection or transport
  • ●Degraded DNA due to improper handling or storage
  • ●Presence of inhibitors in the sample affecting sequencing

Frequently Asked Questions

What is the AMPD2 Gene SPG63 NGS Genetic Test?
It is a Next Generation Sequencing-based genetic test that analyzes the AMPD2 gene to detect mutations causing Hereditary Spastic Paraplegia Type 63.
What is Hereditary Spastic Paraplegia Type 63?
SPG63 is a rare genetic disorder under HSP, characterized by progressive leg stiffness and weakness due to AMPD2 gene mutations affecting the nervous system.
What are the common symptoms of SPG63?
Symptoms include difficulty walking, balance issues, numbness in legs, urinary urgency, and speech difficulties, varying by individual.
How is SPG63 diagnosed?
Diagnosis involves clinical evaluation, MRI imaging, and genetic testing like the AMPD2 Gene test to confirm mutations.
What does the AMPD2 gene test involve?
The test uses NGS technology to sequence the entire AMPD2 gene from a blood or DNA sample, identifying pathogenic variants.
What is the cost of the AMPD2 Gene SPG63 NGS Genetic Test?
The test costs INR 20,000, which includes counseling and support services at DNA Labs India.
Is home sample collection available for this test?
Yes, free home collection is offered across many cities in India for online bookings.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks after sample collection.
What sample type is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How accurate is the NGS technology for this test?
NGS provides high accuracy (>99%) for detecting mutations in the targeted AMPD2 gene regions.
What should I do if I have a family history of HSP?
Consult a neurologist or geneticist for evaluation; genetic testing may be recommended to assess risk and guide management.
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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