PAH Gene Phenylketonuria Genetic Test
Are you concerned about Phenylketonuria (PKU) and want to know more about the PAH Gene Phenylketonuria Genetic Test? Look no further! DNA Labs UAE offers this comprehensive genetic test at an affordable cost of AED 4400.0.
Test Details
Phenylketonuria (PKU) is a genetic disorder caused by mutations in the PAH gene. This gene provides instructions for making an enzyme called phenylalanine hydroxylase, which is responsible for breaking down the amino acid phenylalanine. Individuals with PKU have a deficiency in phenylalanine hydroxylase, leading to a buildup of phenylalanine in the body. This can cause a range of symptoms, including intellectual disability, seizures, behavioral problems, and skin disorders.
Our PAH Gene Phenylketonuria Genetic Test utilizes NGS (Next-Generation Sequencing) technology. NGS is a type of genetic testing that allows for the simultaneous sequencing of multiple genes, making it a powerful tool for diagnosing genetic disorders like PKU. With this test, we can identify any mutations in the PAH gene and provide accurate diagnosis and treatment strategies.
Test Components and Price
Our PAH Gene Phenylketonuria Genetic Test is priced at AED 4400.0. The test requires a blood or extracted DNA sample, or even just one drop of blood on an FTA card. The sample condition is flexible, ensuring convenience for our patients.
Report Delivery and Method
After the sample is collected, the report delivery typically takes 3 to 4 weeks. We use NGS technology to analyze the DNA sample and identify any mutations in the PAH gene. This method ensures accurate and reliable results.
Test Type and Doctor
The PAH Gene Phenylketonuria Genetic Test falls under the category of Metabolic Disorders. Our team of experienced General Physicians specializes in genetic testing and will guide you through the process.
Test Department and Pre Test Information
The PAH Gene Phenylketonuria Genetic Test is conducted in our Genetics department. Before the test, it is important to provide the clinical history of the patient who is going for the test. Additionally, a Genetic Counselling session is recommended to draw a pedigree chart of family members affected by Phenylketonuria. This information helps in accurate diagnosis and treatment planning.
Treatment and Management Strategies
Once the specific mutations in the PAH gene are identified, our healthcare professionals can determine if an individual has PKU and provide appropriate treatment and management strategies. This may include dietary restrictions to limit phenylalanine intake, regular monitoring of blood phenylalanine levels, and the use of specific medications or supplements to help manage the condition.
Overall, the PAH Gene Phenylketonuria Genetic Test offered by DNA Labs UAE is a valuable tool for diagnosing PKU and guiding treatment decisions for individuals with this genetic disorder. Our advanced NGS technology ensures accurate and reliable results, and our experienced team of General Physicians provides comprehensive care throughout the process.
| Test Name | PAH Gene Phenylketonuria Genetic 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 | Metabolic Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for PAH Gene Phenylketonuria NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Phenylketonuria |
| Test Details |
Phenylketonuria (PKU) is a genetic disorder caused by mutations in the PAH gene. This gene provides instructions for making an enzyme called phenylalanine hydroxylase, which is responsible for breaking down the amino acid phenylalanine. Individuals with PKU have a deficiency in phenylalanine hydroxylase, leading to a buildup of phenylalanine in the body. This can cause a range of symptoms, including intellectual disability, seizures, behavioral problems, and skin disorders. NGS (Next-Generation Sequencing) is a type of genetic testing that can be used to identify mutations in the PAH gene. This technique allows for the simultaneous sequencing of multiple genes, making it a powerful tool for diagnosing genetic disorders like PKU. The NGS genetic test for PKU involves obtaining a DNA sample from the individual, typically through a blood or saliva sample. The DNA is then sequenced using NGS technology to identify any mutations in the PAH gene. By identifying the specific mutations in the PAH gene, healthcare professionals can determine if an individual has PKU and provide appropriate treatment and management strategies. This may include dietary restrictions to limit phenylalanine intake, regular monitoring of blood phenylalanine levels, and the use of specific medications or supplements to help manage the condition. Overall, the PAH gene phenylketonuria NGS genetic test is a valuable tool for diagnosing PKU and guiding treatment decisions for individuals with this genetic disorder. |
