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PEPD Gene Prolidase Deficiency Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The PEPD Gene Prolidase Deficiency Genetic Test is a specialized diagnostic procedure designed to identify mutations in the PEPD gene, which are responsible for a rare metabolic disorder known as prolidase deficiency. This condition is characterized by the body’s inability to break down certain proteins properly, leading to a spectrum of symptoms including skin lesions, recurrent infections, and impaired physical development. Early diagnosis through genetic testing is crucial for managing symptoms and improving the quality of life for affected individuals.

Performed at DNA Labs UAE, a leading facility in genetic diagnostics, this test provides a comprehensive analysis of the PEPD gene to detect any abnormalities or mutations. The process involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then examined using advanced genetic sequencing technologies. This enables precise identification of mutations that may lead to prolidase deficiency.

The cost of the PEPD Gene Prolidase Deficiency Genetic Test at DNA Labs UAE is set at 4400 AED. While the price may seem steep, it reflects the intricate technology and expertise required to accurately diagnose this rare genetic disorder. For families and individuals facing the possibility of prolidase deficiency, this test offers a critical pathway towards understanding their condition and accessing appropriate treatments and interventions.

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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.