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Hyperammonemia and Urea Cycle Disorder Panel
₹ 19400
Hyperammonemia and Urea Cycle Disorder Panel
₹ 19400 ₹ 19400

Hyperammonemia and Urea Cycle Disorder Panel

Sample Type 51+ booked in last 3 days
Precaution
Sample Type
Swab
Precaution
Fasting
Yes
Precaution
Report
Within 4 Weeks

Hyperammonemia and Urea Cycle Disorder Panel Price

₹ 19400

Brief Details

Preparation
No special preparation required
Also Known As
Urea cycle defects Gene Panel by NGS
Fasting
Fasting not required
Reporting Time
After 4 weeks
Purpose
To identify genetic mutations causing hyperammonemia and inherited urea cycle disorders and support diagnosis, management, and family risk assessment

What is the Hyperammonemia and Urea Cycle Disorder Panel?

The Hyperammonemia and Urea Cycle Disorder Panel is a genetic blood test designed to identify inherited disorders that affect the body’s ability to remove ammonia from the bloodstream. Ammonia is a toxic waste product formed during protein metabolism, and its accumulation can lead to serious neurological and metabolic complications.

This test analyses key urea cycle related genes using advanced Next Generation Sequencing technology. It requires an EDTA blood sample and helps doctors confirm a diagnosis, guide treatment decisions, and provide accurate genetic counselling for families.

What Does the Hyperammonemia and Urea Cycle Disorder Panel Measure?

This genetic test evaluates disease causing variants in genes involved in ammonia detoxification:

  • Detection of inherited urea cycle disorder related gene mutations
  • Identification of genetic causes of recurrent or unexplained hyperammonemia
  • Differentiation of urea cycle defects from other metabolic conditions
  • Support for dietary, medical, and emergency management planning
  • Guidance for genetic counselling, family screening, and prenatal evaluation

Hyperammonemia and Urea Cycle Disorder Panel: Who Needs It and Why It’s Done

What Symptoms May Call for a Hyperammonemia and Urea Cycle Disorder Panel?

Doctors may recommend this test if an individual experiences:

  • Recurrent vomiting or lethargy
  • Elevated blood ammonia levels without a clear cause
  • Poor feeding or failure to thrive in infants
  • Developmental delay or intellectual disability
  • Seizures, confusion, or altered mental status
  • Sudden metabolic crises triggered by illness or fasting

Who Should Get a Hyperammonemia and Urea Cycle Disorder Panel?

This test may be advised for:

  • Infants or children suspected of having urea cycle disorders
  • Individuals with repeated episodes of hyperammonemia
  • Patients with abnormal newborn screening results
  • Individuals with a family history of urea cycle defects
  • Couples planning a pregnancy with known genetic risk

Why is the Hyperammonemia and Urea Cycle Disorder Panel Done?

The test helps confirm the exact genetic cause of urea cycle dysfunction, allowing early treatment, prevention of life threatening metabolic crises, and informed long term care planning.

Importance of the Hyperammonemia and Urea Cycle Disorder Panel

Early diagnosis of urea cycle disorders is critical because prolonged or repeated hyperammonemia can cause irreversible brain damage. This gene panel enables precise diagnosis, helps guide dietary protein management and medication use, supports emergency care planning, and provides families with valuable information about inheritance and recurrence risk.

Hyperammonemia and Urea Cycle Disorder Panel Booking & Reports – Metropolis Healthcare

How to Book the Hyperammonemia and Urea Cycle Disorder Panel and Get Your Reports?

  1. Simple Online Booking
    Booking can be done through the Metropolis Healthcare App or website. Select the Hyperammonemia and Urea Cycle Disorder Panel, choose a convenient time slot, and provide your address for a blood test at home. You may also visit a nearby Metropolis Lab if you prefer in person sample collection.
  2. Safe Home Sample Collection
    Trained phlebotomists collect your blood sample while strictly following safety and hygiene protocols.
  3. Sample Tracking Updates
    You receive updates at every stage, from sample collection to testing, through the Metropolis Healthcare platform.
  4. Accurate Laboratory Testing
    Your sample is processed at NABL and CAP accredited laboratories using advanced molecular diagnostic technology.
  5. Quick and Easy Reports
    Your reports are shared via email, WhatsApp, or can be downloaded from the Metropolis Healthcare website or app.

Is Home Sample Collection for Hyperammonemia and Urea Cycle Disorder Panel Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Hyperammonemia and Urea Cycle Disorder Panel. This service saves time, reduces travel, and ensures professional sample handling while maintaining strict quality standards.

How Long Does It Take to Get a Hyperammonemia and Urea Cycle Disorder Panel Report?

Reports are usually available after 4 weeks once the sample reaches the lab.
Note: Reporting time may vary based on your location.

Where Can I See or Get Hyperammonemia and Urea Cycle Disorder Panel Results?

  1. You can access your test results through the Metropolis Healthcare website or mobile app by logging in with your credentials.
    Reports are also shared via email or WhatsApp, and a physical copy can be collected from the Metropolis Lab if required.

Interpreting Hyperammonemia and Urea Cycle Disorder Panel Results

What Your Hyperammonemia and Urea Cycle Disorder Panel Results May Indicate

Parameter Expected Finding Pathogenic Variant Detected May Indicate No Variant Detected May Indicate
Urea cycle related genes No disease causing variant detected Inherited urea cycle disorder leading to hyperammonemia Symptoms may be due to other metabolic or non genetic causes

Understanding Abnormal Results by Gene Group

Gene Group What a Pathogenic Variant May Indicate
CPS1, OTC, ASS1, ASL Classical urea cycle disorders affecting ammonia detoxification
ARG1 Arginase deficiency with progressive neurological involvement
SLC25A13, SLC25A15 Transport related urea cycle dysfunction and citrullinemia variants

How Should You Prepare for a Hyperammonemia and Urea Cycle Disorder Panel?

This genetic test requires minimal preparation. Keep the following points in mind:

  • No fasting required unless advised by your doctor
  • Maintain normal hydration
  • Inform your doctor about current medications or supplements
  • Share complete medical and family history
  • Ensure test requisition and consent forms are completed

How Is a Hyperammonemia and Urea Cycle Disorder Panel Done? (Step-by-Step Procedure)

The test is performed using a simple blood collection process:

  • Preparation: A tourniquet is tied around your arm to make veins more visible
  • Cleaning: The puncture site is cleaned with antiseptic
  • Sample Collection: A sterile needle is used to draw about 3 to 5 ml of blood into an EDTA vacutainer
  • Completion: The needle is removed, and a bandage is applied
  • Processing: The sample is analysed using Next Generation Sequencing to identify disease causing genetic variants

Conditions That May Affect Hyperammonemia and Urea Cycle Disorder Panel Accuracy

Certain patient related factors may influence result interpretation:

  • Recent blood transfusion may affect genetic analysis
  • Incomplete or inaccurate clinical history
  • Mosaic genetic variants may be difficult to detect
  • Variants of uncertain significance may require additional family studies

Diseases That the Hyperammonemia and Urea Cycle Disorder Panel Can Help Detect

  • Ornithine transcarbamylase deficiency
  • Citrullinemia
  • Argininosuccinic aciduria
  • Carbamoyl phosphate synthetase deficiency
  • Arginase deficiency
  • Other inherited urea cycle disorders

References

  1. Häberle J., Burlina A., Chakrapani A., et al. (2019). Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet Journal of Rare Diseases, 14(1), 117. PMID: 31186046
  2. Summar M.L., Koelker S., Freedenberg D., et al. (2013). The incidence of urea cycle disorders. Molecular Genetics and Metabolism, 110(1–2), 179–180. PMID: 24011795
  3. Batshaw M.L., Tuchman M., Summar M., Seminara J. (2014). A longitudinal study of urea cycle disorders. Molecular Genetics and Metabolism, 113(1–2), 127–130. PMID: 25059644
  4. Braissant O., McLin V.A., Cudalbu C. (2013). Ammonia toxicity to the brain. Journal of Inherited Metabolic Disease, 36(4), 595–612. PMID: 23371479

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Find quick answers to the most common questions about health tests, bookings, and reports.

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Ratings & Reviews

We're satisfying our customers every day since 1980.

Morning given the samples in Ayanavaram branch got the report by 12.30pm it's fast and efficient delivery by mail and want to tell about the staff they are very professional and friendly definitely I will recommend my friends and family to metropolis labs

Prabhu Gopalakrishnan. 5

The Home Service was excellent. Medical Technician took samples at 7:00am and returned at 9:30 after breakfast to take further samples. The results were sent by email at 6pm. The whole experience was excellent, professional and well organised. Will certainly recommend the home service for convenience

Chris Bessell 5

Excellent service - I was able to request services late at night (9pm) and the technician was at my door at 7:30am the next morning. The services were highly affordable and convenient. I live in the US and the US could learn a lot from Metropolis!!!

Sharmila Vaishnav. 5

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

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  • Real-time tracking of phlebotomist arrival and report generation
  • Fully digital report delivery—view from mobile or desktop instantly
  • Continuous monitoring of turnaround times to ensure accuracy and speed
  • Dedicated support team to resolve any delays or queries quickly

Why Metropolis Healthcare?

Metropolis has been present for over 40 years in the market.

Metropolis has a team of 200 senior pathologists and over 2000 technicians delivering diagnostic solutions in the areas of routine, semi specialty and super specialty domains like Oncology, Neurology, Gynaecology, Nephrology and many more.

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Metropolis Healthcare is a leading diagnostic service provider in India. We are a team of dedicated professionals committed to ensuring you and your family receive the most accurate and timely healthcare solutions. We believe in making health care accessible, affordable and evidence-based. Our expert panel are equipped with the latest technology and manned by a certified team of over 4000+ technicians.

In diagnostic services, we have more than three decades of experience servicing diverse stakeholders health advantage packages for men, women and seniors, genetic fitness & corporation in over 650+ tests like Oncology, Neurology, Gynaecology, Haematology, and many more. Our diagnostic services are located in leading doctors and clinics and serve over 15+ cities in India.

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