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. |
