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Alkaptonuria Urine Quantitative Test

DNA Labs India | ISO 9001:2015 Certified

Alkaptonuria Urine Quantitative Test

Short Name: AKU Urine Quantitative Test

Also known as: Homogentisic Acid Quantitative Test, HGA Urine Test, AKU Urine Test

Alkaptonuria Urine Quantitative Test test available at DNA Labs India for ₹4,500. Uses Gas Chromatography/Mass Spectrometry on Random Urine samples. Results in Report available within 5 days from sample receipt. Free home collection in 300+ cities across India.

Quantitative Urine Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To quantitatively measure homogentisic acid (HGA) in urine for the diagnosis and monitoring of alkaptonuria, a rare genetic disorder.

Test Code
81
Price
₹4,500
Sample Type
Random Urine
Result Time
Report available within 5 days from sample receipt
Fasting Required
No
Method
Gas Chromatography/Mass Spectrometry
Step 1

Sample Collection

No special preparation is required. Inform your healthcare provider about any medications or supplements you are taking.

Method: Urine collection

Step 2

Laboratory Analysis

Collect a random urine sample in a sterile screw-capped container without preservatives. Ensure the container is clean and dry.

Step 3

Report Delivery

Ship the sample refrigerated or frozen to the laboratory as soon as possible to maintain stability.

Timeline: Report available within 5 days from sample receipt

Patient Instructions

1
Before the Test:No special preparation required. Ensure proper collection technique.
2
During the Test:Random urine collection; no invasive procedures involved.
3
After the Test:Sample is processed in the lab; report delivered in 5 days via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

To quantitatively measure homogentisic acid (HGA) in urine for the diagnosis and monitoring of alkaptonuria, a rare genetic disorder.

How to Prepare

  • Collect 15 mL of random urine (minimum 10 mL)
  • Use a sterile screw-capped container without preservatives
  • Label the container with patient details and date
  • Ship refrigerated or frozen; avoid prolonged storage at room temperature

Doctor's Notes

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

"Early diagnosis of alkaptonuria through this urine test is vital for managing symptoms and preventing complications, especially in patients with a family history."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeRandom Urine
Sample Volume15 mL (10 mL min.)
ContainerSterile screw capped container without preservative
Collection MethodUrine collection

Sample Stability

Room Temperature: 6 hours
Refrigerator: 72 hours
Frozen: 4 weeks
Sample Rejection Criteria:
  • Sample collected in improper container
  • Sample contaminated or hemolyzed
  • Insufficient volume (<10 mL)
  • Sample not refrigerated or frozen beyond stability period

Understanding Your Results

Results from the Alkaptonuria Urine Quantitative Test indicate the level of homogentisic acid (HGA) in urine. Interpretation should be done in conjunction with clinical symptoms and medical history.
📊

Elevated HGA levels

Suggestive of alkaptonuria; confirm with genetic testing or clinical evaluation

📊

Normal or undetectable HGA

Alkaptonuria is unlikely; consider other causes for symptoms

⚠️ When to Consult a Doctor:

Consult a healthcare provider if you experience symptoms like dark urine, joint pain, or skin discoloration, or if test results are abnormal. Genetic counseling may be recommended for familial cases.

Limitations

  • This test is not a general screening tool; it is specific for alkaptonuria diagnosis
  • Results may require confirmation with genetic testing or enzyme assays
  • Does not differentiate between symptomatic and asymptomatic carriers
  • Laboratory variability in reference ranges

Risks & Considerations

  • No significant risks associated with urine collection; it is a non-invasive procedure
  • Potential for minor discomfort during collection, but generally safe

Interfering Factors

  • Diet high in phenylalanine or tyrosine may affect HGA levels
  • Certain medications that alter metabolism
  • Improper sample preservation (e.g., exposure to room temperature beyond stability period)
  • Contamination during collection

Compare With Similar Tests

TestAlkaptonuria Urine Quantitative TestHGD Gene Mutation TestHomogentisic Acid Blood TestUrine Organic Acids TestEnzyme Assay for HGD
ComparisonAlkaptonuria Urine Quantitative Test

Frequently Asked Questions

What is alkaptonuria?
Alkaptonuria is a rare genetic disorder caused by a deficiency in the enzyme homogentisate 1,2-dioxygenase (HGD), leading to buildup of homogentisic acid (HGA) in the body, which can cause dark urine, joint pain, and skin discoloration.
What is the Alkaptonuria Urine Quantitative Test?
It is a diagnostic test that measures the level of homogentisic acid (HGA) in urine to confirm alkaptonuria diagnosis. It uses Gas Chromatography/Mass Spectrometry for accurate quantification.
Why is this test recommended?
This test is recommended for individuals with symptoms like dark urine, joint stiffness, or skin changes, or those with a family history of alkaptonuria, to diagnose the condition and guide management.
How is the urine sample collected?
A random urine sample of 15 mL (minimum 10 mL) is collected in a sterile screw-capped container without preservatives. The sample is then shipped refrigerated or frozen to the lab.
Is fasting required for this test?
No, fasting is not required. No special preparation is needed before collecting the urine sample.
How long does it take to get results?
Results are typically available within 5 days from the day the sample is received by the laboratory.
What do elevated HGA levels indicate?
Elevated homogentisic acid levels in urine are indicative of alkaptonuria. Further confirmation may be needed with genetic testing or enzyme assays.
Is the test accurate?
Yes, the test uses Gas Chromatography/Mass Spectrometry, which is a highly accurate and sensitive method for measuring HGA levels, making it reliable for diagnosing alkaptonuria.
Are there any risks or side effects?
The test involves non-invasive urine collection, so there are no significant risks or side effects. It is a safe and routine diagnostic procedure.
What is the cost of the test?
The Alkaptonuria Urine Quantitative Test costs INR 4500 at DNA Labs India, with free home sample collection available in many cities across India.
Where can I get this test done?
You can get the test at DNA Labs India, which offers home collection services in major cities including Mumbai, Delhi, Bangalore, Hyderabad, and more. Book online for convenience.
Is the test covered by insurance?
Coverage depends on your insurance plan. It is not universally covered under government schemes like PMJAY or CGHS; check with your provider for details.
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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