AASS Gene Saccharopinuria Genetic Test
At DNA Labs UAE, we offer the AASS Gene Saccharopinuria Genetic Test to diagnose and detect mutations associated with saccharopinuria, a rare metabolic disorder. This test is conducted using NGS (Next-Generation Sequencing) technology, which allows for accurate analysis of the AASS gene’s DNA sequence.
Test Details
Saccharopinuria is characterized by the accumulation of saccharopine, a compound, in the body. The AASS gene provides instructions for producing an enzyme called aminoadipic semialdehyde synthase, which is responsible for breaking down certain amino acids. Mutations in the AASS gene can disrupt the enzyme’s function, leading to the accumulation of saccharopine.
The AASS Gene Saccharopinuria Genetic Test is used for both diagnostic and carrier testing purposes. It helps confirm a suspected diagnosis of saccharopinuria and can also be used in individuals with a family history of the condition to determine carrier status.
Components and Pricing
The AASS Gene Saccharopinuria Genetic Test is priced at 4400.0 AED. The test requires a blood sample, and the report will be delivered within 3 to 4 weeks.
Test Department and Doctor
The AASS Gene Saccharopinuria Genetic Test is conducted in our Genetics department. The test can be requested by a General Physician.
Pre-Test Information
Before undergoing the AASS Gene Saccharopinuria Genetic Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session is recommended to draw a pedigree chart of family members affected by Saccharopinuria. This session helps understand the implications of the test results and discuss further actions or management options.
For more information or to schedule an appointment, please contact DNA Labs UAE.
Test Name | AASS Gene Saccharopinuria Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Metabolic Disorders |
Doctor | General Physician |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for AASS Gene Saccharopinuria NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Saccharopinuria |
Test Details |
AASS gene saccharopinuria NGS genetic test is a type of genetic test that examines the AASS gene for mutations associated with saccharopinuria. Saccharopinuria is a rare metabolic disorder characterized by the accumulation of a compound called saccharopine in the body. The AASS gene provides instructions for making an enzyme called aminoadipic semialdehyde synthase, which is involved in the breakdown of certain amino acids. Mutations in the AASS gene can disrupt the normal function of this enzyme, leading to the accumulation of saccharopine. NGS (Next-Generation Sequencing) technology is used in this genetic test to analyze the DNA sequence of the AASS gene. This allows for the detection of any mutations or variations that may be present. The AASS gene saccharopinuria NGS genetic test can be used for diagnostic purposes to confirm a suspected diagnosis of saccharopinuria. It can also be used for carrier testing in individuals with a family history of the condition. Genetic counseling is typically recommended before and after undergoing this test to understand the implications of the results and to discuss any further actions or management options. |