PEPD Gene Prolidase Deficiency Genetic Test
Welcome to DNA Labs UAE, where we offer the PEPD Gene Prolidase Deficiency Genetic Test. This test is designed to diagnose and determine the underlying genetic cause of prolidase deficiency, a rare genetic disorder characterized by impaired activity of the prolidase enzyme.
Test Details
The PEPD gene refers to the gene that encodes for the enzyme prolidase. The prolidase enzyme is responsible for breaking down peptides containing the amino acid proline. In individuals with prolidase deficiency, the activity of this enzyme is impaired.
The PEPD Gene Prolidase Deficiency Genetic Test utilizes Next-Generation Sequencing (NGS) technology. NGS is a high-throughput sequencing technology that allows for the rapid and cost-effective sequencing of a large number of genes simultaneously. In the context of prolidase deficiency, this genetic test analyzes the PEPD gene for any mutations or variations that may be associated with the disorder.
By sequencing the PEPD gene, the NGS genetic test can identify any changes in the gene’s DNA sequence that may disrupt the production or function of the prolidase enzyme. This information is crucial in diagnosing prolidase deficiency and determining the underlying genetic cause of the disorder.
NGS genetic tests are increasingly used in clinical practice for the diagnosis of various genetic disorders, including rare conditions like prolidase deficiency. These tests provide a comprehensive analysis of multiple genes simultaneously, allowing for a more accurate and efficient diagnosis.
Test Components and Price
The PEPD Gene Prolidase Deficiency Genetic Test is priced at 4400.0 AED. The test can be performed using blood or extracted DNA, or by using one drop of blood on an FTA Card.
Report Delivery and Method
The report for the PEPD Gene Prolidase Deficiency Genetic Test is typically delivered within 3 to 4 weeks. The test utilizes NGS technology for analysis.
Symptoms and Diagnosis
Prolidase deficiency can present with a range of symptoms, including skin ulcers, intellectual disability, recurrent infections, and abnormal facial features. Diagnosis of prolidase deficiency involves clinical evaluation, genetic testing, and a thorough understanding of the patient’s clinical history.
Referring Doctor and Test Department
The PEPD Gene Prolidase Deficiency Genetic Test is typically referred by a general physician. The test is conducted in the Genetics department at DNA Labs UAE.
Pre Test Information
Prior to undergoing the PEPD Gene Prolidase Deficiency Genetic Test, it is recommended 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 prolidase deficiency. This information can aid in the interpretation of test results and provide valuable insights into the inheritance pattern of the disorder.
At DNA Labs UAE, we are dedicated to providing accurate and comprehensive genetic testing services. Contact us today to learn more about the PEPD Gene Prolidase Deficiency Genetic Test and how it can help in diagnosing prolidase deficiency.
| Test Name | PEPD Gene Prolidase 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 PEPD Gene Prolidase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Prolidase deficiency |
| Test Details |
PEPD gene refers to the gene that encodes for the enzyme prolidase. Prolidase deficiency is a rare genetic disorder characterized by the impaired activity of the prolidase enzyme. This enzyme is responsible for breaking down peptides containing the amino acid proline. NGS (Next-Generation Sequencing) genetic test refers to a high-throughput sequencing technology that allows for the rapid and cost-effective sequencing of a large number of genes simultaneously. In the context of prolidase deficiency, an NGS genetic test can be used to analyze the PEPD gene for any mutations or variations that may be associated with the disorder. By sequencing the PEPD gene, an NGS genetic test can identify any changes in the gene’s DNA sequence that may disrupt the production or function of the prolidase enzyme. This information can help in diagnosing prolidase deficiency and determining the underlying genetic cause of the disorder. NGS genetic tests are increasingly used in clinical practice for the diagnosis of various genetic disorders, including rare conditions like prolidase deficiency. These tests can provide a comprehensive analysis of multiple genes simultaneously, allowing for a more accurate and efficient diagnosis. |
