Short Description

It is characterised by urine that slowly darkens on standing due to deficincy of enzyme Homogentisic Acid oxidase leading to accumulation of Homogentisic Acid.

PreTest Information

No special preparation required

Detail Description

ALKAPTONURIA URINE QUANTITATIVE Test Cost INR:4500 Symptoms Diagnosis

Alkaptonuria is a rare genetic disorder that affects the metabolism of phenylalanine and tyrosine. It is caused by a deficiency of the enzyme homogentisate 1,2-dioxygenase (HGD), which leads to a buildup of homogentisic acid (HGA) in the body. The accumulation of HGA can cause a range of symptoms, including joint pain and stiffness, dark urine, and skin discoloration. The condition is diagnosed through a urine test, which measures the amount of HGA in the urine.

Symptoms of Alkaptonuria

The symptoms of alkaptonuria can vary from person to person, and some people may have no symptoms at all. However, the most common symptoms include:

• Dark urine
• Joint pain and stiffness
• Skin discoloration, particularly on the ears, cheeks, and hands
• Eye problems, such as cataracts and glaucoma

Diagnosis of Alkaptonuria

The diagnosis of alkaptonuria is typically made through a urine test that measures the amount of HGA in the urine. This test is called the Alkaptonuria Urine Quantitative Test, and it is usually performed by a laboratory that specializes in genetic testing.

If the test results show elevated levels of HGA in the urine, further testing may be necessary to confirm the diagnosis. This may include a blood test to check for the HGD enzyme deficiency or a genetic test to look for mutations in the HGD gene.

Cost of Alkaptonuria Urine Quantitative Test

The cost of the Alkaptonuria Urine Quantitative Test in India is typically around INR 4500. However, the cost may vary depending on the laboratory and location.

Conclusion

Alkaptonuria is a rare genetic disorder that can cause a range of symptoms, including joint pain and stiffness, dark urine, and skin discoloration. The condition is diagnosed through a urine test that measures the amount of HGA in the urine. The cost of this test in India is typically around INR 4500. If you are experiencing symptoms of alkaptonuria, it is important to talk to your healthcare provider about getting tested.

At DNA Labs India, we offer a range of genetic tests, including the Alkaptonuria Urine Quantitative Test. Our team of experienced professionals is committed to providing accurate and timely results to help you make informed decisions about your health. Contact us today to learn more about our services.