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Homogentisic Acid (Alkaptonuria) - Qualitative - Urine

Homogentisic Acid (HGA) is a byproduct of the metabolism of two specific amino acids, tyrosine and phenylalanine. Normally, the body further breaks down HGA to be eliminated. However, individuals with alkaptonuria, a rare inherited genetic disorder, lack the necessary enzyme to complete this metabolic step, leading to an accumulation of HGA in the body. The excess HGA is excreted in urine. This test is used to detect the presence of HGA in the urine and thus diagnose alkaptonuria.

  • Test NameHomogentisic Acid (Alkaptonuria) - Qualitative - Urine
  • Sample TypeUrine
  • Preparations RequiredNo special preparation or fasting is needed for this test. Continue with your normal diet and daily activities unless otherwise directed by your healthcare provider
  • Report Time2 days

Alkaptonuria is typically characterized by dark-colored urine and, over time, can cause a variety of health issues including arthritis, heart disease, and kidney stones. As it's a genetic condition, it's often detected in early childhood

Home Sample Collection Process

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Sample Collection by Phlebotomist
Sample Collection by Phlebotomist
Reporting of the sample at lab
Reporting of the sample at lab
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Frequently Asked Questions

This test is typically ordered when a healthcare provider suspects a patient may have alkaptonuria, particularly if the patient has dark-colored urine or a family history of the condition.

The test involves the collection of a urine sample. The sample will then be sent to a lab to be analyzed for the presence of homogentisic acid.

No special preparation is needed for this test. Continue with your normal diet and daily activities unless otherwise directed by your healthcare provider.

The presence of homogentisic acid in the urine is indicative of alkaptonuria. Your healthcare provider will interpret the results in the context of your symptoms and medical history.

The turnaround time for this test is typically 5-7 days, but it can vary depending on the lab.

This test is non-invasive and carries minimal risk. Some people might experience discomfort or embarrassment while collecting the urine sample.

Yes, this test can be used to monitor the progression of alkaptonuria and the effectiveness of any treatments you might be undergoing.

While the urine sample can be collected at home, the sample must be sent to a laboratory for analysis.

Yes, you can continue your normal diet and fluid intake unless instructed otherwise by your healthcare provider.

Yes, children can take this test, especially if there is a family history of alkaptonuria.

Yes, pregnant women can take this test if deemed necessary by their healthcare provider.

Other tests for genetic disorders or tests to assess kidney function may also be ordered.

If your test results are abnormal, consult with your healthcare provider about the next steps, which might include further testing or treatment options.

The frequency of this test depends on your healthcare provider's instructions and your specific condition.

Certain medications and diet can affect your test results. Inform your healthcare provider about any medications you're taking or any special diets you're following.

Certain liver diseases and conditions that affect the metabolism of amino acids can also cause high levels of homogentisic acid in urine.

Dietary changes may help in some cases. However, any dietary changes should be made under the supervision of a healthcare provider.

This test is specifically designed to detect alkaptonuria. Other tests are needed to diagnose other metabolic disorders.

This test is considered highly accurate. However, false positives or negatives can occur and depend on several factors.

Yes, certain medications can affect the result of this test. Inform your healthcare provider about any medications you're taking before the test.

Yes, if you or your child have symptoms like darkening of the urine when it is left standing in the air, dark spots on the white of the eyes, or areas of darkened skin, these may indicate the need for this test.

While there is no cure for alkaptonuria, symptoms can be managed with various treatments, including pain management, physiotherapy for joint stiffness, and in some severe cases, joint replacement surgery.

Lifestyle changes won't typically affect the results of this test, as alkaptonuria is a genetic disorder. However, certain lifestyle changes can help manage the symptoms of the disease.

Alkaptonuria cannot be prevented as it is a genetic disorder. Genetic counseling may be beneficial for prospective parents with a family history of alkaptonuria.

Alkaptonuria is an inherited disorder, so there is a chance your children could also have it. It's important to discuss this with your healthcare provider or a genetic counselor.

No, the test results for homogentisic acid in urine should not differ between men and women.

It is advised to consult your healthcare provider before taking any over-the-counter medication before the test as some medications might interfere with the test results.

If you have more questions about this test, it is recommended to talk to your healthcare provider or a laboratory professional for more detailed information.

Homogentisic Acid (Alkaptonuria) - Qualitative - Urine
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