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USP8 Gene SPG59, USP8 related NGS Genetic Test

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USP8 Gene SPG59, USP8 related NGS Genetic Test

Short Name: USP8 Gene SPG59 Genetic Test

Also known as: USP8-related hereditary spastic paraplegia, SPG59

USP8 Gene SPG59, USP8 related 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.

Next-Generation Sequencing (NGS) Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose SPG59 caused by USP8 gene mutations, confirm clinical suspicion, assess genetic risk, and guide management.

Test Code
1811
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)
Step 1

Sample Collection

Patient should have clinical history reviewed and genetic counseling done.

Method: Venipuncture for blood; other methods for DNA

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or DNA sample provided.

Step 3

Report Delivery

Sample processed in lab for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation recommended to assess need and implications.
2
During the Test:Blood sample collection; lab processing for NGS analysis.
3
After the Test:Report delivered in 3-4 weeks with genetic counseling follow-up to discuss results.

About This Test

Who Should Get This Test

To diagnose SPG59 caused by USP8 gene mutations, confirm clinical suspicion, assess genetic risk, and guide management.

How to Prepare

  • For blood sample, use aseptic technique.
  • For FTA card, apply one drop of blood.
  • Label samples correctly with patient details.

Doctor's Notes

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

"As a referring specialist, I recommend this test for patients with symptoms of hereditary spastic paraplegia to confirm diagnosis and guide management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeN/A
ContainerVacutainer tube or FTA card
Collection MethodVenipuncture for blood; other methods for DNA

Sample Stability

Room Temperature
Refrigerated
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated sample
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the USP8 gene related to SPG59.
📊

Pathogenic variant detected

Confirms SPG59 diagnosis. Genetic counseling recommended for family management.

📊

No pathogenic variant detected

SPG59 unlikely based on this test. Consider other genetic or non-genetic causes of symptoms.

📊

Variant of uncertain significance

Further testing and clinical correlation advised to determine significance.

⚠️ When to Consult a Doctor:

If symptoms of SPG59 are present, such as progressive muscle stiffness and walking difficulties, or if there is a family history of hereditary spastic paraplegia.

Limitations

  • May not detect all mutations if not in sequenced regions
  • Variants of uncertain significance may require further testing
  • Does not assess for other genetic causes of hereditary spastic paraplegia

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection
  • Potential psychological impact of genetic results, addressed through counseling

Interfering Factors

  • Poor sample quality
  • DNA degradation
  • Contamination

Compare With Similar Tests

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Frequently Asked Questions

What is the USP8 Gene SPG59 Genetic Test?
It is an NGS-based test to detect mutations in the USP8 gene causing SPG59, a type of hereditary spastic paraplegia.
What are the symptoms of SPG59?
Symptoms include muscle stiffness, spasticity, walking difficulties, leg weakness, fine motor skill issues, speech difficulties, and cognitive impairment, often starting in childhood.
How is SPG59 diagnosed?
Diagnosis involves clinical evaluation, family history assessment, and genetic testing like this NGS test to confirm USP8 gene mutations.
What is the cost of the USP8 Gene SPG59 test?
The cost at DNA Labs India is INR 20,000, which includes sample collection, DNA extraction, testing, and genetic counseling.
Does the test include home sample collection?
Yes, free home sample collection is available across India for online bookings.
How long does it take to receive test results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What sample types are accepted for this test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Is genetic counseling provided with the test?
Yes, genetic counseling is included to discuss results, inheritance, and management options.
What does a positive test result indicate?
A positive result confirms a diagnosis of SPG59 due to USP8 gene mutations, guiding further care.
Can this test detect all types of USP8 gene mutations?
The NGS test has high accuracy but may not detect all mutations, such as those in non-sequenced regions.
Is the test covered by health insurance?
Coverage depends on your insurance plan; DNA Labs India accepts most major plans, but check with your provider.
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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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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