PEPD Gene Prolidase Deficiency Genetic Test
At DNA Labs UAE, we offer the PEPD Gene Prolidase Deficiency Genetic Test to diagnose and provide valuable information for genetic counseling and family planning. This test is specifically designed to analyze the DNA sequence of the PEPD gene, also known as the prolidase gene.
Test Components and Price
Test Name: PEPD Gene Prolidase Deficiency Genetic Test
Components: NGS Technology
Price: 4400.0 AED
Sample Condition and Report Delivery
Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery: 3 to 4 Weeks
Test Type and Doctor
Test Type: Dysmorphology
Doctor: Pediatrics
Test Department
Test Department: Genetics
Pre Test Information
Clinical History of Patient: It is important to provide the clinical history of the patient who is going for the PEPD Gene Prolidase Deficiency NGS Genetic DNA Test. Additionally, a Genetic Counselling session may be required to draw a pedigree chart of family members affected with PEPD Gene Prolidase Deficiency NGS Genetic DNA Test gene PEPD.
Test Details
The PEPD gene, also known as the prolidase gene, encodes for the enzyme prolidase. This enzyme is responsible for breaking down dipeptides that contain proline or hydroxyproline amino acids. Deficiency in prolidase enzyme activity results in prolidase deficiency, also known as prolidase deficiency syndrome.
Prolidase deficiency is a rare autosomal recessive disorder characterized by a wide range of symptoms, including skin lesions, recurrent infections, intellectual disability, and skeletal abnormalities. The severity of symptoms can vary widely among affected individuals.
NGS (Next-Generation Sequencing) genetic testing is a diagnostic tool used to analyze the DNA sequence of the PEPD gene. This type of testing can identify mutations or variations in the gene that may be responsible for prolidase deficiency. NGS allows for the simultaneous analysis of multiple genes, making it a powerful tool for diagnosing genetic disorders.
NGS genetic testing for PEPD gene mutations can help confirm a diagnosis of prolidase deficiency and provide valuable information for genetic counseling and family planning. It can also aid in the development of targeted treatment strategies for affected individuals.
It is important to consult with a healthcare professional or a genetic counselor to discuss the appropriateness and availability of NGS genetic testing for 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 | Dysmorphology |
Doctor | Pediatrics |
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 PEPD Gene Prolidase deficiency NGS Genetic DNA Test gene PEPD |
Test Details |
PEPD gene, also known as prolidase gene, encodes for the enzyme prolidase. Prolidase is responsible for breaking down dipeptides that contain proline or hydroxyproline amino acids. Deficiency in prolidase enzyme activity results in prolidase deficiency, also known as prolidase deficiency syndrome. Prolidase deficiency is a rare autosomal recessive disorder characterized by a wide range of symptoms, including skin lesions, recurrent infections, intellectual disability, and skeletal abnormalities. The severity of symptoms can vary widely among affected individuals. NGS (Next-Generation Sequencing) genetic testing is a diagnostic tool used to analyze the DNA sequence of the PEPD gene. This type of testing can identify mutations or variations in the gene that may be responsible for prolidase deficiency. NGS allows for the simultaneous analysis of multiple genes, making it a powerful tool for diagnosing genetic disorders. NGS genetic testing for PEPD gene mutations can help confirm a diagnosis of prolidase deficiency and provide valuable information for genetic counseling and family planning. It can also aid in the development of targeted treatment strategies for affected individuals. It is important to consult with a healthcare professional or a genetic counselor to discuss the appropriateness and availability of NGS genetic testing for prolidase deficiency. |