ALDH4A1 Gene Hyperprolinemia type 2 Genetic Test
At DNA Labs UAE, we offer the ALDH4A1 Gene Hyperprolinemia type 2 Genetic Test to help diagnose and manage this rare genetic disorder. This test is designed to identify mutations in the ALDH4A1 gene, which is responsible for producing an enzyme called delta-1-pyrroline-5-carboxylate dehydrogenase.
Test Components and Price
The ALDH4A1 Gene Hyperprolinemia type 2 Genetic Test costs AED 4400.0. The test requires a blood sample for analysis.
Report Delivery and Method
After the sample is collected, the report will be delivered within 3 to 4 weeks. The test is performed using NGS (Next-Generation Sequencing) technology, which allows for comprehensive analysis of the ALDH4A1 gene.
Test Type and Doctor
The ALDH4A1 Gene Hyperprolinemia type 2 Genetic Test falls under the category of Metabolic Disorders. It is recommended to consult with a General Physician for this test.
Test Department and Pre Test Information
The test is conducted in the Genetics department. Before undergoing the ALDH4A1 Gene Hyperprolinemia type 2 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session may be conducted to draw a pedigree chart of family members affected by Hyperprolinemia type 2.
About Hyperprolinemia type 2
Hyperprolinemia type 2 is a rare genetic disorder characterized by elevated levels of proline in the blood and urine. It can lead to various symptoms, including developmental delays, intellectual disability, seizures, and behavioral problems.
About NGS Genetic Testing
NGS (Next-Generation Sequencing) genetic testing is a powerful tool used to identify mutations or variations in genes. In the case of the ALDH4A1 Gene Hyperprolinemia type 2 Genetic Test, NGS technology is employed to sequence the entire gene or specific regions of interest. By detecting changes in the DNA sequence, healthcare professionals can accurately diagnose hyperprolinemia type 2 and provide appropriate management and treatment options.
Genetic Counseling and Future Risks
Genetic counseling may be recommended for individuals and families affected by hyperprolinemia type 2. This session aims to discuss the inheritance pattern and potential risks for future generations. It provides valuable information and support to make informed decisions about family planning.
Test Name | ALDH4A1 Gene Hyperprolinemia type 2 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 ALDH4A1 Gene Hyperprolinemia type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperprolinemia type 2 |
Test Details |
The ALDH4A1 gene is responsible for producing an enzyme called delta-1-pyrroline-5-carboxylate dehydrogenase, which is involved in the breakdown of the amino acid proline. Mutations in the ALDH4A1 gene can lead to a condition called hyperprolinemia type 2. Hyperprolinemia type 2 is a rare genetic disorder characterized by elevated levels of proline in the blood and urine. This condition can cause a range of symptoms including developmental delays, intellectual disability, seizures, and behavioral problems. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that can be used to identify mutations or variations in the ALDH4A1 gene. This test involves sequencing the entire gene or specific regions of interest to detect any changes in the DNA sequence. By identifying mutations in the ALDH4A1 gene through NGS testing, healthcare professionals can diagnose hyperprolinemia type 2 and provide appropriate management and treatment options for individuals with this condition. Genetic counseling may also be recommended for affected individuals and their families to discuss the inheritance pattern and potential risks for future generations. |