Skip to main content
DNA Labs India

UROC1 Gene Urocanase deficiency NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

UROC1 Gene Urocanase deficiency NGS Genetic Test

Short Name: UROC1 Gene Test

Also known as: Urocanase Deficiency Genetic Test, UROC1 NGS Test, Urocanase Deficiency DNA Test

UROC1 Gene Urocanase deficiency 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 SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To diagnose urocanase deficiency by identifying pathogenic mutations in the UROC1 gene using NGS technology, enabling early intervention and management.

Test Code
4602
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are required.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card under aseptic conditions.

Step 3

Report Delivery

Sample is labeled and transported to the laboratory at ambient room temperature for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, obtain informed consent, and collect clinical history.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Report generation, delivery via online portal, email, or WhatsApp, followed by genetic counseling for result interpretation.

About This Test

Who Should Get This Test

To diagnose urocanase deficiency by identifying pathogenic mutations in the UROC1 gene using NGS technology, enabling early intervention and management.

How to Prepare

  • Ensure proper patient identification and sample labeling
  • Use sterile equipment for blood collection
  • For FTA card, apply one drop of blood and allow to dry
  • Store and transport at room temperature

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Early genetic testing for UROC1 gene mutations can facilitate timely diagnosis and management of urocanase deficiency, improving patient outcomes through personalized care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improperly labeled or contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the UROC1 gene, which are associated with urocanase deficiency.
📊

Positive

Pathogenic variant detected, consistent with urocanase deficiency. Clinical correlation and further testing may be needed.

📊

Negative

No pathogenic variants detected. Symptoms may be due to other causes.

📊

Variant of Uncertain Significance (VUS)

Genetic variant found but clinical significance is unknown. Repeat testing or family studies may be recommended.

⚠️ When to Consult a Doctor:

If symptoms of urocanase deficiency are present, such as seizures, developmental delay, or skin lesions, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical symptoms

Risks & Considerations

  • ●Minor bruising or pain at blood draw site
  • ●Rare risk of infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestUROC1 Gene Urocanase deficiency NGS Genetic TestWhole Exome SequencingMetabolic Disorder PanelSanger Sequencing
ComparisonUROC1 Gene Urocanase deficiency NGS Genetic TestBroader analysis but higher cost; UROC1 test is targeted and cost-effective for suspected cases.Includes multiple genes; UROC1 test is specific for urocanase deficiency.Traditional method; NGS is faster and more comprehensive for gene analysis.

Frequently Asked Questions

What is urocanase deficiency?
Urocanase deficiency is a rare genetic disorder caused by mutations in the UROC1 gene, leading to impaired histidine metabolism and accumulation of toxic byproducts.
What are the symptoms of urocanase deficiency?
Symptoms include neurological problems (seizures, intellectual disability), behavioral issues, skin lesions, urinary problems, joint pain, and eye problems like cataracts.
How is urocanase deficiency diagnosed?
Diagnosis is through a genetic test using NGS technology to detect mutations in the UROC1 gene.
What is the cost of the UROC1 Gene Test?
The test costs INR 20000, which includes sample collection, analysis, and report.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
What samples are 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 in 3 to 4 weeks.
Is there a cure for urocanase deficiency?
Currently, there is no cure; treatment focuses on managing symptoms through medications, dietary changes, and therapies.
What should I do before getting tested?
Undergo genetic counseling to understand the test, provide clinical history, and draw a family pedigree chart.
What files are provided with the test report?
DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical report for transparency.
Can this test be used for prenatal diagnosis?
Consult a genetic counselor; prenatal testing may be possible but requires specific protocols.
What if the test result is positive?
A positive result indicates a pathogenic variant; consult a healthcare provider for management and family planning advice.
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.