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Tyrosinemia Panel
₹ 19400
Tyrosinemia Panel
₹ 19400 ₹ 19400

Tyrosinemia Panel

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

Tyrosinemia Panel Price

₹ 19400

Brief Details

Preparation
No special preparation required
Also Known As
Tyrosinemia Gene Panel by NGS
Fasting
Fasting not required
Reporting Time
About 4 weeks
Purpose
To detect genetic changes associated with different types of tyrosinemia

What is the Tyrosinemia Panel?

The Tyrosinemia Panel is a specialised genetic blood test that looks for changes in genes involved in tyrosine metabolism. Tyrosinemia is a rare inherited metabolic disorder in which the body is unable to properly break down the amino acid tyrosine, leading to the buildup of harmful substances in the blood and organs.

This test analyses the FAH, HPD, and TAT genes using advanced Next Generation Sequencing technology. Doctors use it to diagnose different types of tyrosinemia early, confirm the genetic cause, and guide long term treatment planning.

What Does the Tyrosinemia Panel Measure?

This genetic test evaluates key genes responsible for tyrosine metabolism:

  • Detection of disease causing mutations linked to tyrosinemia
  • Identification of the specific type of tyrosinemia, including Type I, II, or III
  • Differentiation of tyrosinemia from other metabolic or liver disorders
  • Support for early diagnosis when biochemical tests suggest metabolic abnormalities

Tyrosinemia Panel: Who Needs It and Why It’s Done

What Symptoms May Call for a Tyrosinemia Panel?

Your doctor may recommend this test if symptoms or clinical findings suggest a metabolic disorder, such as:

  • Poor feeding, vomiting, or failure to thrive in infants
  • Liver enlargement, jaundice, or abnormal liver function tests
  • Kidney problems or rickets like bone changes
  • Developmental delay or neurological symptoms
  • Recurrent episodes of metabolic illness or unexplained liver disease

Who Should Get a Tyrosinemia Panel?

This test is advised for:

  • Infants or children with suspected metabolic or liver disorders
  • Individuals with abnormal newborn screening results
  • Patients with unexplained liver or kidney disease
  • Families with a known history of tyrosinemia
  • Couples seeking genetic counselling or prenatal risk assessment

Why is the Tyrosinemia Panel Done?

The test helps confirm the genetic cause of tyrosinemia, allowing doctors to identify the specific type, plan targeted treatment, and prevent serious complications through early intervention.

Importance of Tyrosinemia Panel

The Tyrosinemia Panel plays a crucial role in early diagnosis and management of inherited metabolic disorders. Identifying the exact genetic defect helps guide dietary modifications, medical therapy, and decisions regarding advanced interventions such as liver transplantation. It also supports genetic counselling, carrier detection, and informed family planning, especially in families with an affected child.

Tyrosinemia Panel Booking & Reports – Metropolis Healthcare

How to Book the Tyrosinemia Panel and Get Your Reports?

  1. Simple Online Booking
    Booking can be done through the Metropolis Healthcare App or website. Select the Tyrosinemia 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 Tyrosinemia Panel Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Tyrosinemia Panel. This service saves you time, reduces the need for travel, and ensures professional sample handling while maintaining strict quality standards.

In How Much Time Will I Get Tyrosinemia Panel Report?

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

Where Can I See or Get Tyrosinemia Panel Results?

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 you may collect a physical copy from the Metropolis Lab if required.

Interpreting Tyrosinemia Panel Results

What Your Tyrosinemia Panel Results May Indicate

Parameter Expected Finding Pathogenic Variant Detected May Indicate No Variant Detected May Indicate
FAH, HPD, TAT genes No disease causing variant detected Tyrosinemia Type I, II, or III depending on the gene involved Symptoms may be due to other metabolic conditions or variants not detected by this panel

Understanding Abnormal Tyrosinemia Panel Test Results

Gene What a Pathogenic Variant May Indicate
FAH Tyrosinemia Type I, often associated with severe liver and kidney involvement
HPD Tyrosinemia Type III, typically linked to neurological symptoms
TAT Tyrosinemia Type II, often affecting the eyes, skin, and nervous system

How Should You Prepare for a Tyrosinemia Panel?

This genetic test requires minimal preparation from your side:

  • No fasting required: You can eat and drink normally before sample collection
  • Medication information: Inform your doctor about any medicines or supplements you are taking
  • Clinical history: Share details of symptoms, newborn screening results, or family history of metabolic disorders
  • Test requisition form: Ensure the completed test requisition form and clinical information are provided

How Is a Tyrosinemia Panel Done? (Step-by-Step Procedure)

The test is carried out using a standard 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 collect about 3 to 5 ml of blood into an EDTA vacutainer
  • Completion: The needle is removed, and a bandage is applied
  • Processing: The blood sample is analysed using Next Generation Sequencing to study the FAH, HPD, and TAT genes

Conditions That May Affect Tyrosinemia Panel Accuracy

Certain patient related factors may influence result interpretation:

  • Incomplete clinical history may limit correlation with genetic findings
  • Variants of uncertain significance may require clinical follow up
  • Early testing before symptom onset may require correlation with biochemical results

Diseases That Tyrosinemia Panel Can Help Detect

  • Tyrosinemia Type I
  • Tyrosinemia Type II
  • Tyrosinemia Type III
  • Inherited disorders of tyrosine metabolism

References

  1. Mitchell G.A., Grompe M., Lambert M., Tanguay R.M. (2001). Hypertyrosinemia. Journal of Inherited Metabolic Disease, 24(2), 99–102. PMID: 11315525
  2. Grompe M., St-Louis M., Demers S.I., al-Dhalimy M. (1995). A mouse model of hereditary tyrosinemia type I. Proceedings of the National Academy of Sciences, 92(12), 5469–5473. PMID: 7777529
  3. de Laet C., Dionisi-Vici C., Leonard J.V., et al. (2013). Recommendations for the management of tyrosinemia type 1. Orphanet Journal of Rare Diseases, 8, 8. PMID: 23331418
  4. Hillert A., Anikster Y., Belanger-Quintana A., et al. (2020). The genetic landscape of tyrosinemia. Molecular Genetics and Metabolism, 131(1–2), 21–29. PMID: 32653441

Frequently asked questions

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

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Common signs include irritability, trouble sleeping, headaches, difficulty concentrating, and muscle tension.

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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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  • 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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