Skip to main content
DNA Labs India

C19orf12 Gene Neurodegeneration with brain iron accumulation type 4 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

C19orf12 Gene Neurodegeneration with brain iron accumulation type 4 NGS Genetic Test

Short Name: C19orf12 NBIA4 NGS Genetic Test

Also known as: NBIA4, Neurodegeneration with brain iron accumulation type 4

C19orf12 Gene Neurodegeneration with brain iron accumulation type 4 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 Reports are delivered within 3 to 4 weeks after the laboratory receives the sample.. 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 NGS genetic test is to identify pathogenic variants in the C19orf12 gene in individuals clinically suspected to have neurodegeneration with brain iron accumulation type 4 (NBIA4). A positive result confirms the diagnosis and informs clinical management, prognosis, and genetic counselling for the patient and family members.

Test Code
4399
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered within 3 to 4 weeks after the laboratory receives the sample.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counseling session is recommended prior to testing, during which the patient's family history and pedigree will be reviewed. Please bring a valid photo ID and any relevant clinical reports.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

A peripheral blood sample will be collected by a trained phlebotomist in an EDTA tube. If an FTA card is used, a few drops of blood will be spotted onto the card and allowed to air dry. For extracted DNA, the sample will be transferred to a sterile DNA storage tube.

Step 3

Report Delivery

The sample is labelled and transported to the laboratory under appropriate conditions. If FTA card is used, store at room temperature in a dry environment. The blood collection site may be covered with a small pressure bandage for a few hours.

Timeline: Reports are delivered within 3 to 4 weeks after the laboratory receives the sample.

Patient Instructions

1
Before the Test:Schedule a genetic counselling session and provide your detailed clinical and family history. Inform the lab of any previously performed genetic tests or imaging findings.
2
During the Test:A blood sample, FTA card specimen, or extracted DNA sample is collected. The sample is then sent to the laboratory for next-generation sequencing of the C19orf12 gene.
3
After the Test:Your sample will undergo DNA extraction, library preparation, sequencing, and variant analysis. An experimental report will be released in 3 to 4 weeks. You may contact the laboratory for any queries.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic variants in the C19orf12 gene in individuals clinically suspected to have neurodegeneration with brain iron accumulation type 4 (NBIA4). A positive result confirms the diagnosis and informs clinical management, prognosis, and genetic counselling for the patient and family members.

How to Prepare

  • No special dietary preparation is required.
  • Do not consume alcohol for at least 24 hours before sample collection (if applicable).
  • Ensure all requisition forms and consent documents are complete.
  • For FTA card collection, use a sterile lancet and follow the procedure as instructed by the phlebotomist.

Doctor's Notes

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

"In patients with progressive dystonia and iron accumulation on brain MRI, this C19orf12 NGS test can shorten the diagnostic odyssey and guide supportive therapy."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA Tube / FTA Card / DNA Elution Tube
Collection MethodVenipuncture or FTA card spot
Sample Rejection Criteria:
  • Clotted blood sample (when EDTA tube is required)
  • Extensively hemolyzed blood sample
  • Mislabelled or unlabeled sample
  • Insufficient sample quantity

Understanding Your Results

Results of this test are reported as positive (pathogenic variant identified), negative (no clinically significant C19orf12 variant detected), or variants of uncertain significance (VUS). Please review results with your ordering physician or genetic counsellor.
📊

Positive

A pathogenic or likely pathogenic variant in C19orf12 was identified, confirming the clinical diagnosis of NBIA4.

📊

Negative

No clinically significant C19orf12 variant was detected. This does not exclude the possibility of NBIA4 caused by undetectable variants or variants in other genes.

📊

Variants of Uncertain Significance (VUS)

A variant was detected whose effect on gene function is not yet known. Additional family studies and further evaluation may be needed.

⚠️ When to Consult a Doctor:

If the test result is positive or a VUS is identified, a consultation with a clinical geneticist is strongly recommended for detailed risk assessment, family counselling, and management planning.

Limitations

  • ⚠This test is limited to the C19orf12 gene; a negative result does not rule out NBIA caused by mutations in other genes.
  • ⚠In rare cases, variants may not be detected due to technical limitations or when the variant is located in a region not covered by the assay.

Risks & Considerations

  • ●Mild bleeding or haematoma at the venipuncture site
  • ●Rare risk of local infection when a blood sample is drawn

Interfering Factors

  • ●Inadequate DNA quantity or quality
  • ●Cross-contamination with foreign DNA

Frequently Asked Questions

What is the C19orf12 gene and how is it related to NBIA4?
The C19orf12 gene provides instructions for making a protein involved in iron transport within cells. Mutations in this gene cause neurodegeneration with brain iron accumulation type 4 (NBIA4), a rare inherited neurological disorder.
What are the symptoms of NBIA4?
Symptoms of NBIA4 typically begin in childhood and worsen over time. They include dystonia, spasticity, difficulty with movement and coordination, speech difficulties, vision problems, seizures, and cognitive decline.
How is NBIA4 diagnosed?
Diagnosis is based on clinical evaluation, brain imaging that may show iron accumulation, and genetic testing to confirm mutations in the C19orf12 gene.
What is the cost of the C19orf12 NGS genetic test in India?
The test is available at a special discounted price of INR 20000 across India. The exact cost may vary depending on the laboratory and specific testing protocol.
What sample is needed for the C19orf12 NGS test?
The preferred sample is peripheral blood in an EDTA tube. Alternatively, extracted DNA or one drop of blood on an FTA card can also be submitted for testing.
Is fasting required before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
How long does it take to get reports?
Reports are typically delivered within 3 to 4 weeks after the sample is received by the laboratory.
What does a positive result mean?
A positive result means a pathogenic or likely pathogenic variant in the C19orf12 gene was identified, which confirms the clinical diagnosis of NBIA4.
What does a negative result mean?
A negative result means no clinically significant mutation in C19orf12 was detected. This does not completely exclude NBIA4 as variants in other genes or deep intronic changes might be responsible.
Is genetic counselling included in this test?
Yes, a genetic counselling session is recommended as part of the pre-test process to draw a pedigree chart of affected family members and explain the implications of the test results.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings. This service is available across all major cities in India including Mumbai, Delhi, Bangalore, Hyderabad, and many more.
How accurate is the NGS test for C19orf12?
Next-generation sequencing is a highly accurate technology that can detect mutations in the C19orf12 gene with a high degree of accuracy, making it a reliable tool for confirming NBIA4 diagnosis.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.

LIMS Integration

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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.