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Alkaptonuria Urine Quantitative Test

630 د.إ

-25%

The Alkaptonuria Urine Quantitative Test is a specialized diagnostic procedure used to detect and measure the levels of homogentisic acid (HGA) in urine. Alkaptonuria is a rare genetic disorder characterized by the body’s inability to properly break down certain amino acids, leading to the accumulation of HGA. This accumulation causes the darkening of urine when exposed to air, among other symptoms. The quantitative analysis of HGA in urine is crucial for the accurate diagnosis of alkaptonuria.

Conducted at DNA Labs UAE, a leading facility known for its comprehensive genetic testing services, this test offers a reliable means of diagnosing alkaptonuria. The test cost is set at 630 AED, reflecting the specialized nature of the analysis and the sophisticated technology employed. By opting for this test at DNA Labs UAE, patients can expect precise results, which are essential for the subsequent management and treatment of alkaptonuria.

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ALKAPTONURIA URINE QUANTITATIVE Test

Test Cost: AED 630.0

Symptoms and Diagnosis

ALKAPTONURIA URINE QUANTITATIVE test is a laboratory test that measures the amount of homogentisic acid (HGA) in the urine. This test is used to diagnose and monitor the progression of a rare genetic disorder called alkaptonuria.

Alkaptonuria is a metabolic disorder in which the body is unable to properly break down an amino acid called phenylalanine. As a result, a substance called homogentisic acid builds up in the body and is excreted in the urine. The accumulation of homogentisic acid can lead to various symptoms, including darkening of the urine, joint and muscle pain, and the development of black pigment in connective tissues.

Test Components and Method

The ALKAPTONURIA URINE QUANTITATIVE test involves collecting a urine sample from the patient and measuring the concentration of homogentisic acid in the sample. This can be done using various laboratory techniques, such as gas chromatography/mass spectrometry.

Test Results and Interpretation

The test results are reported as the amount of homogentisic acid present in the urine, usually expressed in milligrams per liter (mg/L) or micromoles per liter (mol/L). A normal result for the ALKAPTONURIA URINE QUANTITATIVE test is typically less than 0.5 mg/L or 30 mol/L. Higher levels of homogentisic acid in the urine indicate the presence of alkaptonuria. The severity of the condition can be assessed by monitoring the changes in homogentisic acid levels over time.

Importance of the Test

The ALKAPTONURIA URINE QUANTITATIVE test is an important tool in the diagnosis and management of alkaptonuria. It helps healthcare providers evaluate the effectiveness of treatment strategies and make appropriate recommendations for patients with this rare genetic disorder.

Test Details

  • Test Name: ALKAPTONURIA URINE QUANTITATIVE Test
  • Components: Homogentisic Acid
  • Price: AED 630.0
  • Sample Condition: 15 mL (10 mL min.) aliquot of random urine in a sterile screw capped container without preservative. Ship refrigerated or frozen.
  • Report Delivery: Sample Daily by 5 pm; Report 5 days
  • Method: Gas Chromatography/Mass Spectrometry
  • Test Type: Inborn errors of metabolism
  • Doctor: Pediatrician, Physician
  • Test Department: GENETIC
  • Pre Test Information: No special preparation required
Test Name ALKAPTONURIA URINE QUANTITATIVE Test
Components Homogentisic Acid
Price 630.0 AED
Sample Condition 15 mL (10 mL min.) aliquot of random urine in a sterile screw capped container without preservative. Ship refrigerated or frozen.
Report Delivery Sample Daily by 5 pm; Report 5 days
Method Gas Chromatography/Mass Spectrometry
Test type Inborn errors of metabolism
Doctor Pediatrician, Physician
Test Department: GENETIC
Pre Test Information No special preparation required
Test Details

The ALKAPTONURIA URINE QUANTITATIVE test is a laboratory test that measures the amount of homogentisic acid (HGA) in the urine. This test is used to diagnose and monitor the progression of a rare genetic disorder called alkaptonuria.

Alkaptonuria is a metabolic disorder in which the body is unable to properly break down an amino acid called phenylalanine. As a result, a substance called homogentisic acid builds up in the body and is excreted in the urine. The accumulation of homogentisic acid can lead to various symptoms, including darkening of the urine, joint and muscle pain, and the development of black pigment in connective tissues.

The ALKAPTONURIA URINE QUANTITATIVE test involves collecting a urine sample from the patient and measuring the concentration of homogentisic acid in the sample. This can be done using various laboratory techniques, such as spectrophotometry or chromatography. The test results are reported as the amount of homogentisic acid present in the urine, usually expressed in milligrams per liter (mg/L) or micromoles per liter (mol/L).

A normal result for the ALKAPTONURIA URINE QUANTITATIVE test is typically less than 0.5 mg/L or 30 mol/L. Higher levels of homogentisic acid in the urine indicate the presence of alkaptonuria. The severity of the condition can be assessed by monitoring the changes in homogentisic acid levels over time.

The ALKAPTONURIA URINE QUANTITATIVE test is an important tool in the diagnosis and management of alkaptonuria. It helps healthcare providers evaluate the effectiveness of treatment strategies and make appropriate recommendations for patients with this rare genetic disorder.