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What is a Homogentisic Acid Alkaptonuria Urine?

The Homogentisic Acid Alkaptonuria Urine test is a specialized diagnostic test that measures the levels of homogentisic acid in urine. Elevated levels indicate alkaptonuria, a rare inherited metabolic disorder caused by deficiency of the enzyme homogentisate oxidase. This condition leads to darkened urine, joint problems, and connective tissue pigmentation over time. The test is performed to confirm diagnosis, monitor disease progression, and guide clinical management, helping doctors provide appropriate treatment and genetic counseling for affected patients.

Additional Information

Also known as/ Other names: Urine Homogentisic Acid Test, Alkaptonuria Urine Test, Homogentisic Acid Urinary Assay, Urinary Organic Acid – Homogentisic Acid
Parameters: 1
Recommended for: M/F/Others
Sample Type: Random Urine
Patient Preparation: Drug history is required.
Reports: Next Day

FAQs

Who should undergo this test?

Patients with dark urine, joint pain, or suspected metabolic disorders benefit from this test.

Can this test detect carriers?

Yes, it can help identify individuals carrying the genetic defect even without symptoms.

Can alkaptonuria cause complications?

Yes, it may lead to arthritis, heart valve disease, and connective tissue pigmentation.

Is the test safe for children?

Yes, it is safe and often used to diagnose alkaptonuria in pediatric patients.

Can this test differentiate alkaptonuria from other conditions?

Yes, it specifically detects homogentisic acid, distinguishing alkaptonuria from other metabolic disorders.

Is the test useful for genetic counseling?

Yes, it helps families understand inheritance patterns and risks.

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