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WDR45 Gene Neurodegeneration with brain iron accululation type 5 NGS Genetic Test

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WDR45 Gene Neurodegeneration with brain iron accululation type 5 NGS Genetic Test

Also known as: NBIA Type 5, WDR45-related Neurodegeneration

WDR45 Gene Neurodegeneration with brain iron accululation type 5 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 TestAll ages, typically diagnosed in early childhood🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this genetic test is to confirm the diagnosis of neurodegeneration with brain iron accumulation type 5 (NBIA type 5) by detecting mutations in the WDR45 gene using NGS technology. It aids in identifying the specific genetic cause, guiding treatment decisions, and enabling family member screening for carrier status or risk assessment.

Test Code
1762
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

Provide clinical history of the patient. Undergo a genetic counseling session to draw a pedigree chart of family members affected with the disease.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and undergo genetic counseling to assess family history and draw a pedigree chart.
2
During the Test:Sample collection via blood draw or DNA extraction; the test itself is performed in a laboratory using NGS technology.
3
After the Test:Results are delivered within 3-4 weeks. Genetic counseling should be arranged to discuss results and next steps.

About This Test

Who Should Get This Test

The purpose of this genetic test is to confirm the diagnosis of neurodegeneration with brain iron accumulation type 5 (NBIA type 5) by detecting mutations in the WDR45 gene using NGS technology. It aids in identifying the specific genetic cause, guiding treatment decisions, and enabling family member screening for carrier status or risk assessment.

How to Prepare

  • Ensure sample is collected in a sterile environment.
  • For blood samples, use appropriate anticoagulant tubes.
  • Label samples correctly with patient details.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Rejection Criteria:
  • Insufficient sample volume.
  • Contaminated or hemolyzed samples.
  • Incorrect labeling or documentation.

Understanding Your Results

Results from the WDR45 NBIA Type 5 NGS Genetic Test indicate the presence or absence of genetic variants in the WDR45 gene. Interpretation should be done by a qualified geneticist or neurologist in conjunction with clinical findings.
📊

Positive

Pathogenic mutation detected, confirming diagnosis of NBIA type 5.

📊

Negative

No pathogenic variants found; diagnosis of NBIA type 5 is less likely but not excluded.

📊

Variant of Uncertain Significance (VUS)

Genetic variant identified but its clinical significance is unknown; further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a doctor if a child exhibits symptoms such as delayed motor skills, walking difficulties, seizures, or cognitive impairment. Genetic counseling is recommended after receiving test results to understand implications for the family.

Limitations

  • ⚠May not detect all types of genetic variants, such as large deletions or duplications.
  • ⚠Results require correlation with clinical symptoms and family history.

Risks & Considerations

  • ●Emotional or psychological impact of results.
  • ●Potential implications for family members regarding carrier status.

Frequently Asked Questions

What is the WDR45 NBIA Type 5 NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to analyze the WDR45 gene for mutations causing neurodegeneration with brain iron accumulation type 5.
What is the cost of this genetic test?
The test costs INR 20,000, with free home sample collection available across India.
What are the symptoms of NBIA type 5?
Symptoms include delayed motor development, walking difficulties, speech problems, seizures, cognitive impairment, and behavioral issues, typically appearing in early childhood.
How is the test performed?
A blood sample or extracted DNA is analyzed using NGS technology to sequence the WDR45 gene and identify mutations.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the WDR45 gene, confirming a diagnosis of NBIA type 5.
Can family members be tested after a positive result?
Yes, genetic testing can be offered to family members to determine carrier status or risk of developing the disorder.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not typically covered under government schemes like PMJAY or CGHS without specific approval.
How accurate is this genetic test?
The test has high accuracy for detecting mutations in the WDR45 gene using NGS technology, but it may not detect all types of genetic variants.
Who should consider getting this test?
Individuals with symptoms of neurodegeneration, a family history of NBIA, or those seeking confirmation of diagnosis should consider this test.
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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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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