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WDR48 Gene SPG60, WDR48 related NGS Genetic Test

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WDR48 Gene SPG60, WDR48 related NGS Genetic Test

Short Name: WDR48 Gene SPG60 NGS Genetic Test

Also known as: SPG60 Genetic Test, WDR48 Gene Sequencing, Hereditary Spastic Paraplegia 60 Test

WDR48 Gene SPG60, WDR48 related 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

The purpose of this test is to identify mutations in the WDR48 gene that cause SPG60, aiding in the diagnosis of hereditary spastic paraplegia, guiding treatment decisions, and facilitating genetic counseling for affected individuals and families.

Test Code
1816
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

A genetic counseling session is recommended to draw a pedigree chart and discuss the test. Provide clinical history and informed consent.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture from a vein in the arm.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis. Results are reviewed and reported.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Blood sample collection is a simple venipuncture procedure.
3
After the Test:Results are available online in 3-4 weeks; follow up with a genetic counselor or neurologist for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the WDR48 gene that cause SPG60, aiding in the diagnosis of hereditary spastic paraplegia, guiding treatment decisions, and facilitating genetic counseling for affected individuals and families.

How to Prepare

  • No fasting required
  • Bring a valid ID and prescription
  • Provide informed consent for genetic testing
  • Ensure sample is labeled correctly

Doctor's Notes

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

"Early genetic testing for SPG60 is vital for accurate diagnosis, management, and informed family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerSterile EDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods at appropriate storage conditions
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed sample
  • Improper labeling or documentation

Understanding Your Results

Results indicate whether pathogenic mutations in the WDR48 gene are detected, which are associated with SPG60. A positive result confirms the diagnosis, while a negative result suggests other causes may need exploration.
📊

Confirms diagnosis of SPG60. Genetic counseling and management strategies should be discussed.

Result type: Positive (Pathogenic Variant Detected)

📊

SPG60 is unlikely, but clinical correlation is advised. Consider other genetic or non-genetic causes.

Result type: Negative (No Pathogenic Variants)

📊

Further testing or family studies may be required to determine significance.

Result type: Variant of Uncertain Significance

⚠️ When to Consult a Doctor:

If symptoms of SPG60 are present, such as progressive muscle stiffness and walking difficulties, or after receiving test results for guidance on management and family planning.

Limitations

  • ⚠May not detect all types of genetic variants (e.g., large deletions or duplications)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, soreness, or rare infection at puncture site

Interfering Factors

  • ●Low DNA quality or quantity
  • ●Sample contamination during collection or transport

Frequently Asked Questions

What is SPG60?
SPG60 is a rare hereditary neurological disorder caused by mutations in the WDR48 gene, characterized by progressive muscle stiffness and weakness in the lower limbs.
What are the common symptoms of SPG60?
Symptoms include muscle stiffness, weakness, difficulty walking, abnormal gait, foot drop, spasticity, and urinary urgency, often starting in childhood or adolescence.
How is SPG60 diagnosed?
Diagnosis involves clinical evaluation, genetic testing (like the WDR48 Gene NGS Test), and imaging studies such as MRI to rule out other conditions.
What does the NGS Genetic Test for WDR48 gene entail?
The test uses next-generation sequencing to analyze the entire WDR48 gene for mutations, providing a comprehensive genetic profile for SPG60.
What is the cost of the WDR48 Gene SPG60 NGS Genetic Test in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample is required for this test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
What if the test result is positive?
A positive result indicates a pathogenic variant in the WDR48 gene, confirming SPG60. Genetic counseling and management options should be discussed with a healthcare provider.
Can this test be used for prenatal diagnosis?
This test is typically for postnatal diagnosis; prenatal testing may require specialized genetic counseling and different procedures.
Where can I get this test done in India?
DNA Labs India offers this test with home collection services across many cities, including Mumbai, Delhi, Bangalore, and more. Check the website for full list.
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.

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