SUCCINYLACETONE URINE Test
Cost: AED 820.0
Symptoms and Diagnosis
Test Name: SUCCINYLACETONE URINE Test
Components: Succinylacetone
Price: 820.0 AED
Sample Condition: 10 mL (5 mL min.) aliquot of random urine in a sterile screw capped container. Do not use preservatives. Ship refrigerated or frozen.
Report Delivery: Sample Mon/Thu by 9 am; Report Thu/Mon
Method: Gas Chromatography/Mass Spectrometry
Test Type: Inborn errors of metabolism
Doctor: Pediatrician
Test Department: Genetic
Pre Test Information: Give brief clinical history.
Test Details
The Succinylacetone urine test is a diagnostic test used to detect the presence of succinylacetone in urine. Succinylacetone is an intermediate metabolite in the heme biosynthesis pathway, specifically in the breakdown of tyrosine.
This test is primarily used for the diagnosis of hereditary tyrosinemia type 1 (HT1), a rare genetic disorder characterized by the deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). HT1 leads to the accumulation of toxic metabolites, including succinylacetone, which can cause liver and kidney damage if not treated early.
The test involves collecting a urine sample from the patient and analyzing it for the presence of succinylacetone using specialized laboratory techniques such as gas chromatography-mass spectrometry (GC-MS) or liquid chromatography-tandem mass spectrometry (LC-MS/MS). Elevated levels of succinylacetone in the urine indicate a possible diagnosis of HT1.
Early detection of succinylacetone in urine is crucial for prompt treatment and management of HT1. If diagnosed early, patients with HT1 can benefit from dietary modifications and medications that help prevent the buildup of toxic metabolites and minimize the risk of complications.
Test Name | SUCCINYLACETONE URINE Test |
---|---|
Components | |
Price | 820.0 AED |
Sample Condition | 10 mL(5 mLmin.) aliqout ofrandom urine in a sterile screw capped container.Donotusepreservatives.Ship refrigerated or frozen. Givebrief clinical history. |
Report Delivery | SampleMon / Thu by 9 am; Report Thu / Mon |
Method | GasChromatography/Mass Spectrometry |
Test type | Inborn errors of metabolism |
Doctor | Pediatrician |
Test Department: | GENETIC |
Pre Test Information | Give brief clinical history. |
Test Details |
Succinylacetone urine test is a diagnostic test used to detect the presence of succinylacetone in urine. Succinylacetone is an intermediate metabolite in the heme biosynthesis pathway, specifically in the breakdown of tyrosine. This test is primarily used for the diagnosis of hereditary tyrosinemia type 1 (HT1), a rare genetic disorder characterized by the deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). HT1 leads to the accumulation of toxic metabolites, including succinylacetone, which can cause liver and kidney damage if not treated early. The test involves collecting a urine sample from the patient and analyzing it for the presence of succinylacetone using specialized laboratory techniques such as gas chromatography-mass spectrometry (GC-MS) or liquid chromatography-tandem mass spectrometry (LC-MS/MS). Elevated levels of succinylacetone in the urine indicate a possible diagnosis of HT1. Early detection of succinylacetone in urine is crucial for prompt treatment and management of HT1. If diagnosed early, patients with HT1 can benefit from dietary modifications and medications that help prevent the buildup of toxic metabolites and minimize the risk of complications. |