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GTPBP2 Gene Neurodegeneration with brain iron accumulation, GTPBP2 related NGS Genetic Test

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GTPBP2 Gene Neurodegeneration with brain iron accumulation, GTPBP2 related NGS Genetic Test

Short Name: GTPBP2 NBIA NGS Test

Also known as: GTPBP2 NBIA NGS Test, GTPBP2 Gene Sequence Analysis, GTPBP2-related NBIA Genetic Test

GTPBP2 Gene Neurodegeneration with brain iron accumulation, GTPBP2 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 The final report is delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 NGS genetic test is to detect variants in the GTPBP2 gene that are associated with neurodegeneration with brain iron accumulation (NBIA). It is intended to support a clinical diagnosis, aid in differential diagnosis, and provide information for genetic counselling and family risk assessment.

Test Code
4403
ICD Code
G23.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The final report is delivered within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A clinical history, including a pedigree chart of affected family members, is helpful for interpreting the result. Pre-test genetic counselling is recommended.

Method: Venipuncture or FTA card spot collection

Step 2

Laboratory Analysis

A venous blood sample is collected in an EDTA tube, or one drop of blood is placed on an FTA card. A simple needle prick may cause minor, temporary discomfort.

Step 3

Report Delivery

No restrictions are needed after sample collection. The sample is sent to the laboratory for NGS analysis. Reports are issued within 3 to 4 weeks.

Timeline: The final report is delivered within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:A clinical genetics consultation and pedigree analysis are recommended before undergoing this test, if possible.
2
During the Test:A blood sample is taken by venipuncture or a spot blood collection on an FTA card. No special preparation is needed.
3
After the Test:You may return to normal activities. The lab will process the NGS analysis and share the report through the selected delivery channel.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect variants in the GTPBP2 gene that are associated with neurodegeneration with brain iron accumulation (NBIA). It is intended to support a clinical diagnosis, aid in differential diagnosis, and provide information for genetic counselling and family risk assessment.

How to Prepare

  • No fasting required.
  • Use an EDTA tube for whole blood collection.
  • For FTA cards, apply one drop of blood to the marked circle and allow it to air-dry.
  • Ensure the sample is labeled correctly with patient name and ID.
  • Inform the lab about any prior genetic testing or family history.

Doctor's Notes

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

"A molecularly confirmed diagnosis of GTPBP2-related NBIA supports accurate recurrence risk counselling, reproductive planning, and coordinated care with a neurologist."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2 mL venous blood or 1 blood spot on FTA card
ContainerEDTA vacutainer / FTA card / sterile DNA vial
Collection MethodVenipuncture or FTA card spot collection

Sample Stability

Whole blood (EDTA): 2-8°C for up to 72 hours
FTA card: stable at ambient temperature for 2-4 weeks
Extracted DNA: -20°C for long-term storage
Sample Rejection Criteria:
  • Mislabeled or unlabeled sample
  • Sample received in formalin or unsuitable transport medium
  • Insufficient blood volume or inadequate FTA spot
  • FTA card that is still wet or contaminated

Understanding Your Results

The clinical interpretation of GTPBP2 NGS results is based on the presence or absence of a pathogenic or likely pathogenic variant and correlation with the patient's clinical features.
📊

Supports a molecular diagnosis of GTPBP2-related NBIA. Clinical correlation and genetic counselling are recommended.

📊

Less likely to be GTPBP2-related NBIA, but a diagnosis is not excluded if strong clinical or radiological suspicion remains.

📊

The variant cannot yet be classified as benign or pathogenic. Additional family testing or further functional studies may be needed.

⚠️ When to Consult a Doctor:

Consult a neurologist and a clinical geneticist if the test identifies a pathogenic or likely pathogenic variant in GTPBP2. Even with a negative result, further evaluation is recommended if symptoms of NBIA persist.

Limitations

  • ⚠This test is limited to the GTPBP2 gene and will not detect variants in other NBIA-related genes.
  • ⚠NGS may not detect large structural rearrangements, large deletions/duplications, deep intronic mutations, or repeat expansions.
  • ⚠A variant of uncertain significance may require additional family studies.
  • ⚠A negative result does not exclude a clinical diagnosis of NBIA if the patient's presentation remains highly suggestive.

Risks & Considerations

  • ●Minor pain or bruising at the venipuncture site
  • ●Dizziness or lightheadedness after blood collection
  • ●No radiation exposure and no significant systemic risk

Interfering Factors

  • ●Poor quality or degraded DNA
  • ●Contamination with another person's DNA
  • ●DNA variants in high-GC repeat regions that may be difficult to sequence
  • ●Maternal cell contamination in prenatal samples

Compare With Similar Tests

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Frequently Asked Questions

What is the GTPBP2 gene NBIA NGS genetic test?
It is a next-generation sequencing test that analyses the GTPBP2 gene for variants associated with neurodegeneration with brain iron accumulation. It helps confirm or rule out GTPBP2-related NBIA.
What is the cost of the GTPBP2 NBIA NGS test at DNA Labs India?
The test costs INR 20,000 at DNA Labs India. Online bookings also include free home sample collection, where available.
What sample is required for this test?
A blood sample in an EDTA tube, extracted DNA, or one drop of blood on an FTA card can be used for the test.
Do I need to fast before the test?
No, fasting is not required for this GTPBP2 gene NGS genetic test.
How long will the report take?
The report is generally delivered within 3 to 4 weeks after the sample reaches the laboratory.
What does a positive result mean?
A positive result means a pathogenic or likely pathogenic variant in the GTPBP2 gene was identified. This supports the diagnosis of GTPBP2-related NBIA, and your doctor will correlate it with clinical findings.
What does a negative result mean?
A negative result means no clinically significant GTPBP2 variant was found. It does not entirely rule out NBIA because variants in other genes may be responsible.
What is a Variant of Uncertain Significance (VUS)?
A VUS is a genetic change whose clinical effect is currently unknown. Additional family analysis or further clinical evaluation may be required to determine its significance.
Will I receive raw data with my report?
Yes. DNA Labs India shares raw data files, including FASTQ and VCF files, along with the clinical test report for transparency.
Can this test detect all NBIA-causing genes?
No, this test is specific to the GTPBP2 gene. A broader NBIA gene panel can be considered if the clinical picture is not limited to GTPBP2.
Is genetic counselling needed?
Pre-test and post-test genetic counselling are strongly recommended. This helps families understand the result, its inheritance, and recurrence risks.
How do I book this test?
You can book online through the DNA Labs India website. Free home sample collection is provided across multiple Indian cities for online bookings.
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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