Alpha Amino Adipic Aciduria Test
Test Cost: AED 2210.0
Symptoms, Diagnosis, and Test Details
Alpha Amino Adipic Aciduria is a rare genetic disorder characterized by the accumulation of alpha-aminoadipic acid in the body. This condition is caused by mutations in the DHTKD1 gene, responsible for lysine breakdown.
The Alpha Amino Adipic Aciduria test is a diagnostic test used to confirm the presence of this disorder. It involves the analysis of a urine sample to measure the levels of alpha-aminoadipic acid. Elevated levels of this acid in the urine can indicate the presence of alpha amino adipic aciduria.
The test may also include genetic testing to identify mutations in the DHTKD1 gene. This helps confirm the diagnosis and determine the specific genetic mutation causing the disorder.
Test Components and Price
Test Name: Alpha Amino Adipic Aciduria Test
Components: Urology
Price: AED 2210.0
Sample Condition and Report Delivery
Sample Condition: Consult a doctor/genetic counselor before undergoing this test.
Report Delivery: 2 weeks
Test Department and Doctor
Test Department: Genetics
Doctor: Urologist
Pre Test Information
It is advisable to consult a doctor or genetic counselor before undergoing this test.
Diagnosis and Treatment
Diagnosis of Alpha Amino Adipic Aciduria is important for proper management and treatment of the condition. Treatment typically involves a low-lysine diet and supplementation with specific vitamins and cofactors to support the breakdown of lysine in the body. Regular monitoring of alpha-aminoadipic acid levels in the urine may also be necessary to assess the effectiveness of treatment.
Test Name | Alpha Amino adipic aciduria Test |
---|---|
Components | |
Price | 2210.0 AED |
Sample Condition | |
Report Delivery | 2 weeks |
Method | |
Test type | Urology |
Doctor | Urologist |
Test Department: | Genetics |
Pre Test Information | Consult a doctor/ genetic counsellor before undergoing this test |
Test Details |
Alpha amino adipic aciduria is a rare genetic disorder characterized by the accumulation of alpha-aminoadipic acid in the body. This condition is caused by mutations in the DHTKD1 gene, which is responsible for the breakdown of lysine in the body. The alpha amino adipic aciduria test is a diagnostic test used to confirm the presence of this disorder. It typically involves the analysis of a urine sample to measure the levels of alpha-aminoadipic acid. Elevated levels of this acid in the urine can indicate the presence of alpha amino adipic aciduria. The test may also include genetic testing to identify mutations in the DHTKD1 gene. This can help confirm the diagnosis and determine the specific genetic mutation causing the disorder. Diagnosis of alpha amino adipic aciduria is important for proper management and treatment of the condition. Treatment typically involves a low-lysine diet and supplementation with specific vitamins and cofactors to support the breakdown of lysine in the body. Regular monitoring of alpha-aminoadipic acid levels in the urine may also be necessary to assess the effectiveness of treatment. |