UREA CYCLE DISORDER PANEL Test
Test Cost: AED 1700.0
Symptoms, Diagnosis, and Test Details
The Urea Cycle Disorder Panel Test is a diagnostic tool used to evaluate the function of the urea cycle, a series of biochemical reactions in the liver that help remove toxic ammonia from the body. This test is typically performed when a healthcare provider suspects a urea cycle disorder, which is a genetic condition that impairs the body’s ability to break down ammonia.
The panel test measures the levels of various amino acids and other metabolites in the blood and urine, including ammonia, citrulline, arginine, and ornithine. Abnormal levels of these substances can indicate a urea cycle disorder. The test may also include genetic testing to identify specific gene mutations that cause urea cycle disorders. This can help confirm the diagnosis and provide information about the specific type of disorder and its inheritance pattern.
The Urea Cycle Disorder Panel Test is typically ordered for individuals who present with symptoms such as developmental delays, intellectual disability, seizures, vomiting, and failure to thrive. It can also be used for newborn screening in some cases. Early diagnosis and treatment of urea cycle disorders are crucial to prevent complications and manage the condition effectively. Treatment usually involves dietary modifications, medication, and sometimes, liver transplantation.
Test Components and Pre Test Information
Test Name: UREA CYCLE DISORDER PANEL Test
Components: Various amino acids and metabolites, including ammonia, citrulline, arginine, and ornithine
Price: AED 1700.0
Sample Condition: 10 mL (5 mL min.) aliquot of random urine in a sterile screw-capped container. No preservative required. 2 mL (1 mL min.) plasma from 1 Green Top (Sodium Heparin) tube. Transfer plasma into a sterile screw-capped vial. Ship refrigerated or frozen.
Report Delivery: Sample Daily by 5pm; Report 5 days
Method: LC-MS/MS, GC-MS
Test Type: Inborn errors of metabolism
Doctor: Pediatrician
Test Department: Genetic
Pre Test Information: Clinical details and drug history must accompany the sample.
It is important to note that the Urea Cycle Disorder Panel Test is a specialized test that may not be available at all healthcare facilities. It is typically performed in specialized laboratories or referral centers with expertise in metabolic disorders. A healthcare provider will determine if this test is appropriate based on an individual’s symptoms, medical history, and family history.
| Test Name | UREA CYCLE DISORDER PANEL Test |
|---|---|
| Components | |
| Price | 1700.0 AED |
| Sample Condition | 10 mL (5 mL min.) aliquot of random urineinasterilescrewcapped container.Nopreservativerequired AND 2 mL (1 mL min.) plasma from 1 GreenTop(SodiumHeparin)tube. Transferplasmaintoasterilescrew cappedvial.Shiprefrigeratedorfrozen. Clinicaldetailsanddrughistorymust accompanysample. |
| Report Delivery | SampleDailyby5pm;Report5days |
| Method | LC-MS/MS, GC/MS |
| Test type | Inborn errors of metabolism |
| Doctor | Pediatrician |
| Test Department: | GENETIC |
| Pre Test Information | Clinical details and drug history must accompany sample. |
| Test Details | The Urea Cycle Disorder Panel Test is a diagnostic tool used to evaluate the function of the urea cycle, a series of biochemical reactions in the liver that help remove toxic ammonia from the body. This test is typically performed when a healthcare provider suspects a urea cycle disorder, which is a genetic condition that impairs the body’s ability to break down ammonia. The panel test measures the levels of various amino acids and other metabolites in the blood and urine, including ammonia, citrulline, arginine, and ornithine. Abnormal levels of these substances can indicate a urea cycle disorder. The test may also include genetic testing to identify specific gene mutations that cause urea cycle disorders. This can help confirm the diagnosis and provide information about the specific type of disorder and its inheritance pattern. The Urea Cycle Disorder Panel Test is typically ordered for individuals who present with symptoms such as developmental delays, intellectual disability, seizures, vomiting, and failure to thrive. It can also be used for newborn screening in some cases. Early diagnosis and treatment of urea cycle disorders are crucial to prevent complications and manage the condition effectively. Treatment usually involves dietary modifications, medication, and sometimes, liver transplantation. It is important to note that the Urea Cycle Disorder Panel Test is a specialized test that may not be available at all healthcare facilities. It is typically performed in specialized laboratories or referral centers with expertise in metabolic disorders. A healthcare provider will determine if this test is appropriate based on an individual’s symptoms, medical history, and family history. |
