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UMPS Gene Orotic Aciduria Genetic Test

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

-21%

The UMPS Gene Orotic Aciduria Genetic Test is a specialized diagnostic procedure designed to detect mutations in the UMPS gene, which are responsible for the rare metabolic disorder known as orotic aciduria. This condition affects the body’s ability to metabolize certain proteins, leading to an accumulation of orotic acid in the blood and urine, which can cause a variety of health issues including growth retardation, anemia, and urinary tract problems. Early detection through genetic testing is crucial for managing symptoms and preventing complications.

The test involves analyzing the patient’s DNA to identify any genetic abnormalities in the UMPS gene, which encodes the enzyme uridine monophosphate synthetase, essential for the proper metabolism of pyrimidine, a component of DNA and RNA. A mutation in this gene disrupts the normal process, leading to the symptoms associated with orotic aciduria.

Conducted at DNA Labs UAE, a leading facility in genetic diagnostics, the UMPS Gene Orotic Aciduria Genetic Test is available for a cost of 4400 AED. The lab employs state-of-the-art technology and methodologies to ensure accurate and reliable results, providing essential information for the appropriate management and treatment of individuals with orotic aciduria.

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UMPS Gene Orotic aciduria Genetic Test

Are you or your loved one experiencing symptoms of Orotic aciduria? DNA Labs UAE offers the UMPS Gene Orotic aciduria Genetic Test to help diagnose and confirm this rare genetic disorder. Read on to learn more about the test, its components, cost, and other important details.

Test Details

The UMPS gene orotic aciduria NGS genetic test is a type of genetic test that identifies mutations or variations in the UMPS gene. The UMPS gene is responsible for encoding the enzyme UMP synthase, which is involved in the synthesis of uridine monophosphate (UMP), a crucial component of RNA and DNA.

Orotic aciduria is a rare genetic disorder characterized by the body’s inability to produce sufficient UMP, leading to the accumulation of orotic acid. This condition can cause various symptoms, including anemia, failure to thrive, developmental delays, and urinary tract problems.

Components and Price

  • Test Name: UMPS Gene Orotic aciduria Genetic Test
  • 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

Before undergoing the UMPS Gene Orotic aciduria Genetic Test, it is important 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 Orotic aciduria. This information helps in the accurate interpretation of test results.

NGS Technology

Next-generation sequencing (NGS) is a high-throughput DNA sequencing technology used in the UMPS gene orotic aciduria NGS genetic test. NGS allows for the rapid and cost-effective analysis of multiple genes simultaneously. It can detect small genetic variations, such as single nucleotide polymorphisms (SNPs) or small insertions/deletions, as well as larger structural variations, such as gene duplications or deletions.

Diagnosis and Carrier Testing

The UMPS gene orotic aciduria NGS genetic test can be used to diagnose or confirm a suspected case of orotic aciduria. It can also be used for carrier testing in individuals with a family history of the condition. The test results provide valuable information for treatment decisions and assessing the risk of passing the condition on to future generations.

If you or your loved one are experiencing symptoms of Orotic aciduria or have a family history of the condition, consider undergoing the UMPS Gene Orotic aciduria Genetic Test at DNA Labs UAE. Our experienced team of geneticists and advanced NGS technology ensure accurate and reliable results.

Test Name UMPS Gene Orotic aciduria 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 UMPS Gene Orotic aciduria NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Orotic aciduria
Test Details

UMPS gene orotic aciduria NGS genetic test is a type of genetic test that is used to identify mutations or variations in the UMPS gene. This gene is responsible for encoding the enzyme UMP synthase, which is involved in the synthesis of uridine monophosphate (UMP), a crucial component of RNA and DNA.

Orotic aciduria is a rare genetic disorder characterized by the inability to produce sufficient UMP, leading to the accumulation of orotic acid in the body. This condition can result in various symptoms, including anemia, failure to thrive, developmental delays, and urinary tract problems.

NGS, or next-generation sequencing, is a high-throughput DNA sequencing technology that allows for the rapid and cost-effective analysis of multiple genes simultaneously. It can detect small genetic variations, such as single nucleotide polymorphisms (SNPs) or small insertions/deletions, as well as larger structural variations, such as gene duplications or deletions.

The UMPS gene orotic aciduria NGS genetic test can be used to diagnose or confirm a suspected case of orotic aciduria. It can also be used for carrier testing in individuals with a family history of the condition. The results of the test can help guide treatment decisions and provide information about the risk of passing the condition on to future generations.

SKU: TEST-2581 Category:

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