Skip to main content
DNA Labs India

NAGS Gene N-acetylglutamate synthase deficiency NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

NAGS Gene N-acetylglutamate synthase deficiency NGS Genetic Test

Short Name: NAGS Gene NGS Test

Also known as: NAGS Gene Mutation Test, N-acetylglutamate Synthase Deficiency Genetic Test

NAGS Gene N-acetylglutamate synthase 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 Reports available within 3 to 4 weeks after sample receipt.. 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 N-acetylglutamate synthase deficiency by detecting mutations in the NAGS gene using Next-Generation Sequencing (NGS) technology.

Test Code
2192
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports available within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling recommended to discuss implications and obtain clinical history.

Step 2

Laboratory Analysis

Blood sample collection by a trained phlebotomist using standard venipuncture techniques.

Step 3

Report Delivery

Sample is labeled and sent to the laboratory for DNA extraction and NGS analysis.

Timeline: Reports available within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:Genetic counseling to discuss test implications, family history, and obtain informed consent.
2
During the Test:Non-invasive blood draw; procedure typically takes 10-15 minutes.
3
After the Test:Follow-up with genetic counselor or physician to interpret results and plan next steps.

About This Test

Who Should Get This Test

To diagnose N-acetylglutamate synthase deficiency by detecting mutations in the NAGS gene using Next-Generation Sequencing (NGS) technology.

How to Prepare

  • Use sterile collection tubes to avoid contamination
  • Ensure proper labeling with patient details
  • Maintain sample at ambient temperature during transport

Doctor's Notes

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

"Genetic testing is crucial for early diagnosis and management of NAGS deficiency to prevent hyperammonemia and related complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood: 24 hours at room temperature
Extracted DNA: Stable for several years if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the NAGS gene associated with N-acetylglutamate synthase deficiency.
No pathogenic mutations detected: Indicates normal NAGS gene function
Pathogenic mutation(s) detected: Consistent with NAGS deficiency, clinical correlation recommended
Variant of uncertain significance: Requires further evaluation and genetic counseling
⚠️ When to Consult a Doctor:

If test results indicate a mutation, or if symptoms persist or worsen, consult a genetic specialist or metabolic disorder expert for management.

Limitations

  • ⚠Only detects known mutations in the NAGS gene
  • ⚠Does not rule out other genetic or metabolic disorders
  • ⚠False negatives possible if mutations are outside sequenced regions

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential emotional impact of genetic results

Interfering Factors

  • ●Sample contamination or degradation
  • ●Hemolyzed blood samples
  • ●Incorrect sample storage conditions

Compare With Similar Tests

TestNAGS Gene N-acetylglutamate synthase deficiency NGS Genetic Test
ComparisonNAGS Gene N-acetylglutamate synthase deficiency NGS Genetic Test

Frequently Asked Questions

What is NAGS deficiency?
NAGS deficiency is a rare genetic disorder where mutations in the NAGS gene impair the body's ability to break down ammonia, leading to toxic buildup.
How is NAGS deficiency inherited?
It is inherited in an autosomal recessive pattern, meaning both parents must carry a mutation for a child to be affected.
What are the symptoms of NAGS deficiency?
Symptoms include vomiting, lethargy, seizures, developmental delays, and in severe cases, coma or death.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze the NAGS gene from a blood or DNA sample for mutations.
What is the cost of the NAGS Gene NGS Genetic Test?
The test costs INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in multiple cities.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do if the test shows a mutation?
Consult a genetic counselor or metabolic disorder specialist for guidance on management and family planning.
Is genetic counseling provided?
Yes, DNA Labs India offers genetic counseling to help interpret results and understand implications.
Can this test be done for newborns?
Yes, it can be performed on individuals of any age, including newborns, especially if there is a family history.
What other tests are related to NAGS deficiency?
Related tests include panels for other urea cycle disorders like OTC, CPS1, and ASS1 gene mutations.
Is the test covered by insurance?
Coverage varies; it is advisable to check with your insurance provider, but schemes like PMJAY may not cover it.
Can NAGS deficiency be treated?
While there is no cure, NAGS deficiency can be managed with medications such as N-carbamylglutamate and dietary modifications to reduce ammonia levels. Early diagnosis and treatment are essential to prevent complications.
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

Amino Acids Qualitative Urine & Plasma Test

₹3,000

Galactose Quantitative Plasma Test

₹1,872

Galactosemia Panel 3 Test

₹4,563

Galactosemia Panel 1 Test

₹2,867

Canavan Disease Test

₹4,500

Galactose-1-Phosphate Quantitative Blood Test

₹1,989
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.