PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency Genetic Test
At DNA Labs UAE, we offer the PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency Genetic Test for individuals suspected to have this rare genetic disorder. This diagnostic test utilizes next-generation sequencing (NGS) technology to analyze the PNPO gene for mutations or variations.
Test Details
The PNPO gene pyridoxamine 5′-phosphate oxidase deficiency NGS genetic test is specifically designed to detect pyridoxamine 5′-phosphate oxidase deficiency, a genetic disorder characterized by a deficiency of the PNPO enzyme. The PNPO enzyme is responsible for converting vitamin B6 into its active form, pyridoxal 5′-phosphate (PLP), which is essential for various metabolic processes in the body.
During the test, a sample of DNA is collected from the individual being tested. This can be done through a blood or saliva sample. The DNA is then sequenced using NGS technology to identify any variations or mutations in the PNPO gene. The test can detect both known and novel mutations, providing an accurate diagnosis of pyridoxamine 5′-phosphate oxidase deficiency.
Components and Price
The cost of the PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency Genetic Test is AED 4400.0. The sample condition required for the test includes blood, extracted DNA, or one drop of blood on an FTA Card.
Report Delivery and Method
The report for the PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency Genetic Test is typically delivered within 3 to 4 weeks. The test utilizes NGS technology for analysis.
Test Type and Doctor
The PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency 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 PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency Genetic Test is conducted in the Genetics department. Prior to the test, it is important to provide the clinical history of the patient and undergo a Genetic Counselling session to draw a pedigree chart of family members affected with Pyridoxamine 5′-phosphate oxidase deficiency.
Symptoms and Diagnosis
Pyridoxamine 5′-phosphate oxidase deficiency is characterized by various symptoms, including seizures, developmental delay, and neurologic abnormalities. The PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency Genetic Test is used for diagnostic purposes in individuals suspected to have this condition based on their clinical symptoms.
Treatment and Importance of Early Diagnosis
Early diagnosis of pyridoxamine 5′-phosphate oxidase deficiency is crucial for appropriate management and treatment. Individuals with this condition often require lifelong supplementation with pyridoxal 5′-phosphate (PLP), the active form of vitamin B6. Timely diagnosis allows for the initiation of proper treatment and support.
Genetic Counseling and Support
It is recommended to undergo genetic counseling both before and after undergoing the PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency Genetic Test. This counseling session helps in understanding the implications of the test results and provides appropriate support and guidance.
| Test Name | PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency 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 PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Pyridoxamine 5′-phosphate oxidase deficiency |
| Test Details |
PNPO gene pyridoxamine 5′-phosphate oxidase deficiency NGS genetic test is a diagnostic test that uses next-generation sequencing (NGS) technology to analyze the PNPO gene for mutations or variations. This test is specifically designed to detect pyridoxamine 5′-phosphate oxidase deficiency, which is a rare genetic disorder characterized by a deficiency of the PNPO enzyme. The PNPO enzyme is responsible for converting vitamin B6 into its active form, pyridoxal 5′-phosphate (PLP). PLP is essential for various metabolic processes in the body, including the synthesis of neurotransmitters and the metabolism of amino acids. Mutations in the PNPO gene can lead to reduced or absent enzyme activity, resulting in a buildup of toxic compounds and a deficiency of PLP. The PNPO gene pyridoxamine 5′-phosphate oxidase deficiency NGS genetic test involves collecting a sample of DNA, typically through a blood or saliva sample, from the individual being tested. The DNA is then sequenced using NGS technology to identify any variations or mutations in the PNPO gene. The test can detect both known and novel mutations in the gene, allowing for an accurate diagnosis of pyridoxamine 5′-phosphate oxidase deficiency. This genetic test is primarily used for diagnostic purposes in individuals suspected to have pyridoxamine 5′-phosphate oxidase deficiency based on their clinical symptoms, such as seizures, developmental delay, and neurologic abnormalities. Early diagnosis of this condition is crucial for appropriate management and treatment, as it often requires lifelong supplementation with PLP. It is important to note that this test is specific to pyridoxamine 5′-phosphate oxidase deficiency and does not analyze other genes or genetic conditions. Genetic counseling is recommended both before and after undergoing this test to discuss the implications of the results and provide appropriate support and guidance. |
