UROC1 Gene Urocanase Deficiency Genetic Test
At DNA Labs UAE, we offer the UROC1 Gene Urocanase Deficiency Genetic Test for individuals who may be showing symptoms or have a family history of this rare genetic disorder. This test can help diagnose urocanase deficiency and provide valuable information for treatment options and management strategies.
Test Details
The UROC1 gene, also known as urocanase, is responsible for producing the urocanase enzyme. Urocanase deficiency affects the metabolism of histidine, an amino acid found in proteins. This deficiency is caused by mutations in the UROC1 gene, which result in reduced or absent urocanase enzyme activity.
Our UROC1 Gene Urocanase Deficiency Genetic Test utilizes NGS (Next-Generation Sequencing) technology to analyze an individual’s DNA sequence. This advanced method allows us to identify mutations or variants in the UROC1 gene that may be associated with urocanase deficiency.
Test Components
- Price: 4400.0 AED
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Method: NGS Technology
- Test Type: Neurological Disorders
- Doctor: Neurologist
- Test Department: Genetics
Pre Test Information
Prior to undergoing the UROC1 Gene Urocanase Deficiency Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by UROC1 Gene Urocanase Deficiency.
Benefits of the Test
By identifying mutations or variants in the UROC1 gene, our NGS genetic testing can aid in the diagnosis of urocanase deficiency. This information is crucial in determining appropriate treatment options and management strategies for affected individuals.
It is essential to note that NGS genetic testing for UROC1 gene mutations is typically performed in specialized laboratories and requires a healthcare professional’s order. Genetic counseling may also be recommended before and after the test to help individuals understand the implications of the results and make informed decisions about their healthcare.
Test Name | UROC1 Gene Urocanase deficiency Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Neurological Disorders |
Doctor | Neurologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for UROC1 Gene Urocanase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with UROC1 Gene Urocanase deficiency |
Test Details |
UROC1 gene, also known as urocanase, is responsible for producing the urocanase enzyme. Urocanase deficiency is a rare genetic disorder that affects the metabolism of histidine, an amino acid found in proteins. This deficiency is caused by mutations in the UROC1 gene, leading to a reduced or absent urocanase enzyme activity. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze an individual’s DNA sequence. In the context of UROC1 gene testing, NGS can be used to identify mutations or variants in the UROC1 gene that may be associated with urocanase deficiency. The NGS genetic test for UROC1 gene typically involves collecting a sample of the individual’s DNA, usually through a blood or saliva sample. The DNA is then sequenced using advanced sequencing technologies, which can quickly and accurately analyze the entire UROC1 gene sequence for any genetic abnormalities. By identifying mutations or variants in the UROC1 gene, NGS genetic testing can help diagnose urocanase deficiency in individuals who may be showing symptoms or have a family history of the condition. This information can also be useful in determining appropriate treatment options and management strategies for affected individuals. It’s important to note that NGS genetic testing for UROC1 gene mutations is typically performed in specialized laboratories and requires a healthcare professional’s order. Genetic counseling may also be recommended before and after the test to help individuals understand the implications of the results and make informed decisions about their healthcare. |