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ARG1 Gene Arginase deficiency NGS Genetic Test

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ARG1 Gene Arginase deficiency NGS Genetic Test

ARG1 Gene Arginase 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 SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify pathogenic mutations in the ARG1 gene associated with arginase deficiency, aiding in diagnosis, carrier testing, and genetic counseling.

Test Code
4634
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 and undergo a genetic counseling session to draw a pedigree chart of family members affected with arginase deficiency.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or using an FTA card for one drop of blood.

Step 3

Report Delivery

Sample is processed and analyzed using NGS technology; reports are delivered in 3 to 4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are required before sample collection.
2
During the Test:Blood sample collection via standard venipuncture or FTA card method.
3
After the Test:Sample analysis using NGS technology; results available in 3 to 4 weeks.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the ARG1 gene associated with arginase deficiency, aiding in diagnosis, carrier testing, and genetic counseling.

How to Prepare

  • Use sterile equipment for blood collection
  • For FTA card, ensure one drop of blood is applied correctly
  • Label samples with patient details accurately

Doctor's Notes

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

"Early genetic testing for arginase deficiency is crucial for timely intervention, family planning, and managing metabolic complications in affected individuals."

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 samples: stable at room temperature for 24 hours
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of mutations in the ARG1 gene. A positive result confirms arginase deficiency, while a negative result suggests no detected mutations, but does not rule out other causes.
📊

Positive for pathogenic variant

Confirms diagnosis of arginase deficiency; genetic counseling and management recommended.

📊

Negative for pathogenic variant

No mutations detected in the ARG1 gene; consider other diagnostic tests if symptoms persist.

📊

Variant of uncertain significance

Further testing and clinical correlation needed; genetic counseling advised.

⚠️ When to Consult a Doctor:

Consult a doctor if you or a family member exhibit symptoms such as developmental delays, seizures, or liver dysfunction, or if there is a known family history of arginase deficiency.

Limitations

  • ⚠May not detect all possible genetic variants or mutations
  • ⚠Does not assess enzyme activity directly
  • ⚠Results should be correlated with clinical findings and other tests

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection or fainting

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Recent blood transfusions
  • ●Inadequate sample volume or storage conditions

Frequently Asked Questions

What is arginase deficiency?
Arginase deficiency is a rare genetic disorder where the body cannot break down the amino acid arginine due to mutations in the ARG1 gene, leading to its accumulation and causing neurological and liver problems.
How is arginase deficiency diagnosed?
Diagnosis involves clinical evaluation, blood tests to measure arginine levels, and genetic testing such as the ARG1 Gene NGS Test to identify mutations.
What are the symptoms of arginase deficiency?
Symptoms include developmental delays, mental retardation, seizures, spasticity, difficulty walking, behavioral issues, jaundice, and abnormal liver function.
What is the cost of the ARG1 Gene NGS Genetic Test in India?
The cost is INR 20000, which includes home sample collection across India.
Is home sample collection available for this test?
Yes, free home sample collection is available for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks after sample collection.
What sample type is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should consider this genetic test?
Individuals with symptoms of arginase deficiency, a family history of the disorder, or elevated arginine levels in blood tests should consider this test.
What does a positive test result mean?
A positive result confirms the presence of mutations in the ARG1 gene, indicating arginase deficiency, and requires medical management and genetic counseling.
Is the test covered by insurance?
Generally, genetic tests like this may not be covered by insurance; out-of-pocket costs are common. Check with your provider for details.
Can this test be used for carrier testing?
Yes, the test can identify carriers of ARG1 gene mutations, which is useful for family planning and genetic counseling.
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.

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.

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