Homogentisic Acid (Alkaptonuria) - Quantitative - Urine

The Homogentisic Acid test, also known as the Alkaptonuria test, is a specialized urine analysis designed to detect elevated levels of homogentisic acid, an amino acid metabolite. This crucial diagnostic tool aids in identifying Alkaptonuria, a rare inherited disorder affecting the body's ability to effectively metabolize certain amino acids.

Alkaptonuria is characterized by an accumulation of homogentisic acid in the body, leading to distinctive dark-colored urine. Over time, this buildup can result in ochronosis, a condition where connective tissues may be damaged, potentially impacting the heart, kidneys, and joints. Detecting Alkaptonuria early through the homogentisic acid test is vital for effective symptom management. It provides healthcare professionals with essential information to develop strategies for minimizing the impact of the disorder on the patient's overall health.

While there is currently no cure for Alkaptonuria, early diagnosis enables proactive measures to address and alleviate symptoms, enhancing the quality of life for affected individuals. Regular monitoring through the homogentisic acid test forms a crucial part of the ongoing management and treatment plan.

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• Test NameHomogentisic Acid (Alkaptonuria) - Quantitative - Urine
• Sample TypeUrine
• Preparations RequiredThere are no specific instructions for the preparation of this test. Continue with your usual diet and medications unless directed otherwise by your healthcare provider.
• Report Time6 Days

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There is typically no special preparation needed for the test. You should continue your normal diet and medications unless instructed otherwise by your healthcare provider.

The test requires a urine sample which can usually be collected at home, over a specified period of time.