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Alkaptonuria (HGD) gene analysis
₹ 18500
Alkaptonuria (HGD) Gene Analysis Test
₹ 18500 ₹ 18500

Alkaptonuria (HGD) Gene Analysis Test

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

Alkaptonuria (HGD) gene analysis Price

₹ 18500

Brief Details

Preparation
No special preparation required
Also Known As
Alkaptonuria (HGD) gene analysis
Fasting
Fasting not required
Reporting Time
After 4 weeks
Purpose
To detect genetic mutations causing alkaptonuria, a rare inherited metabolic disorder

What is the Alkaptonuria (HGD) Gene Analysis Test?

The Alkaptonuria (HGD) Gene Analysis Test is a genetic blood test used to diagnose alkaptonuria, a rare inherited metabolic condition that affects the breakdown of the amino acids phenylalanine and tyrosine. The disorder leads to accumulation of homogentisic acid in the body.

This test analyses the HGD gene using next generation sequencing technology to identify disease causing genetic changes. Confirming the diagnosis helps guide long term management, prevent complications, and provide accurate genetic counselling for affected individuals and families. 

What Does the Alkaptonuria (HGD) Gene Analysis Test Measure?

This genetic test looks for disease causing changes in the HGD gene:

  • Detects pathogenic variants responsible for alkaptonuria
  • Helps confirm the cause of unexplained joint, skin, or cardiac symptoms
  • Supports early diagnosis before irreversible tissue damage occurs
  • Aids genetic counselling and family screening
  • Guides dietary and medical management strategies

Alkaptonuria (HGD) Gene Analysis Test: Who Needs It and Why It’s Done

What Symptoms May Call for an Alkaptonuria (HGD) Gene Analysis Test?

Doctors may recommend this test if you experience:

  • Darkening of urine on standing or exposure to air
  • Early onset joint pain or stiffness, especially in the spine or large joints
  • Bluish black discoloration of ear cartilage or skin
  • Chronic back pain or reduced mobility
  • Signs of heart valve disease at a young age

Who Should Get an Alkaptonuria (HGD) Gene Analysis Test?

This test may be advised for:

  • Individuals with suspected alkaptonuria based on clinical features
  • Patients with early degenerative joint disease of unclear cause
  • People with a family history of alkaptonuria
  • Individuals requiring confirmation for long term disease monitoring
  • Families seeking genetic counselling and carrier assessment

Why is the Alkaptonuria (HGD) Gene Analysis Test Done?

The test helps confirm the genetic cause of alkaptonuria, allowing early intervention, targeted management, and prevention of long term joint and cardiac complications.

Alkaptonuria (HGD) Gene Analysis Test Booking & Reports – Metropolis Healthcare

How to Book the Alkaptonuria (HGD) Gene Analysis Test and Get Your Reports?

  1. Simple Online Booking
    Booking can be done through the Metropolis Healthcare App or website. Select the Alkaptonuria (HGD) Gene Analysis Test, 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 Alkaptonuria (HGD) Gene Analysis Test Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Alkaptonuria (HGD) Gene Analysis Test. 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 the Alkaptonuria (HGD) Gene Analysis Test 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 Alkaptonuria (HGD) Gene Analysis Test Results?

You can access your test reports through the Metropolis Healthcare website or mobile app using your login credentials. Reports are also sent via email or WhatsApp, and you may collect a physical copy from the Metropolis Lab if required.

Interpreting Alkaptonuria (HGD) Gene Analysis Test Results

What Your Alkaptonuria (HGD) Gene Analysis Results May Indicate

Parameter Expected Finding Pathogenic Variant Detected May Indicate No Variant Detected May Indicate
HGD gene No disease causing variant detected Confirmed genetic alkaptonuria Symptoms may be due to other metabolic disorders or variants not detected by this analysis

Understanding Abnormal Alkaptonuria (HGD) Gene Analysis Results

Finding What It May Indicate
Pathogenic HGD variant Alkaptonuria with risk of joint, cardiac, and connective tissue involvement
No pathogenic variant Alternative metabolic or musculoskeletal condition requiring evaluation

How Should You Prepare for an Alkaptonuria (HGD) Gene Analysis Test?

This genetic test requires minimal preparation from your side:

  • No fasting required: You can eat and drink normally before sample collection
  • Normal hydration: Maintain your usual fluid intake
  • Medication disclosure: Inform your doctor about any medicines or supplements
  • Share clinical history: Provide relevant medical and family history as advised
  • Consent and documentation: Ensure the test requisition form and clinical details are completed

How Is an Alkaptonuria (HGD) Gene Analysis Test Done? (Step-by-Step Procedure)

The test is performed 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 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 undergoes next generation sequencing to analyse the HGD gene

Conditions That May Affect Alkaptonuria (HGD) Gene Analysis Test Accuracy

Certain patient related factors may influence test interpretation:

  • Recent blood transfusion, which may affect genetic analysis
  • Incomplete or inaccurate clinical or family history
  • Presence of mosaic genetic changes requiring clinical correlation

Diseases That the Alkaptonuria (HGD) Gene Analysis Test Can Help Detect

  • Alkaptonuria
  • Inherited disorders of tyrosine metabolism
  • Genetic causes of early degenerative joint disease

References

  1. Phornphutkul C., Introne W.J., Perry M.B., et al. (2002). Natural history of alkaptonuria. New England Journal of Medicine, 347(26), 2111–2121. PMID: 12501223
  2. Ranganath L.R., Jarvis J.C., Gallagher J.A. (2013). Recent advances in management of alkaptonuria. Journal of Clinical Pathology, 66(5), 367–373. PMID: 23396583
  3. Zatkova A. (2011). An update on molecular genetics of alkaptonuria. Journal of Inherited Metabolic Disease, 34(6), 1127–1136. PMID: 21814778

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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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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.

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