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APRT Gene Adenine Phosphoribosyltransferase Deficiency Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 3,200 د.إ.

-43%

The APRT Gene Adenine Phosphoribosyltransferase Deficiency Genetic Test is a specialized diagnostic tool used to detect deficiencies in the APRT gene, which can lead to a rare condition known as Adenine Phosphoribosyltransferase Deficiency. This condition affects the body’s ability to break down adenine, leading to the accumulation of 2,8-dihydroxyadenine (2,8-DHA) crystals, which can cause kidney stones, kidney damage, or even kidney failure if left untreated.

This genetic test involves analyzing the patient’s DNA to identify mutations in the APRT gene that are responsible for the enzyme deficiency. Early detection through this test is crucial for managing symptoms, preventing complications, and improving the quality of life for affected individuals.

The test is available at DNA Labs UAE, a leading facility known for its advanced genetic testing services. The cost of the APRT Gene Adenine Phosphoribosyltransferase Deficiency Genetic Test is set at 3200 AED. This price includes the full testing process, from sample collection to detailed analysis and reporting. Patients seeking this test can expect a comprehensive service that combines state-of-the-art technology with expert interpretation of results, ensuring accurate and reliable diagnoses.

Home  Sample collection service available

  • 100% accuaret Test Results
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  • This test is not intended for medical diagnosis or treatment
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APRT Gene Adenine phosphoribosyltransferase deficiency Genetic Test

Components

  • Test Name: APRT Gene Adenine phosphoribosyltransferase deficiency Genetic Test
  • Price: 3200.0 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 APRT Gene Adenine phosphoribosyltransferase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Adenine phosphoribosyltransferase deficiency.

Test Details

APRT gene adenine phosphoribosyltransferase deficiency is a rare genetic disorder that affects the metabolism of adenine, a building block of DNA and RNA. This condition is caused by mutations in the APRT gene, which is responsible for producing the enzyme adenine phosphoribosyltransferase. Individuals with APRT deficiency are unable to properly break down adenine, leading to the accumulation of a substance called 2,8-dihydroxyadenine (DHA) in the kidneys and urinary tract. Over time, DHA crystals can form and cause kidney stones, which can lead to kidney damage if left untreated.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of the APRT gene and identify any mutations or variations that may be present. This test can help diagnose APRT deficiency and determine the specific genetic cause of the condition. Early diagnosis of APRT deficiency through genetic testing is important as it allows for appropriate management and treatment strategies to be implemented. Treatment options may include a low-purine diet, increased fluid intake, and medications to prevent the formation of kidney stones.

It is recommended to consult with a healthcare professional or genetic counselor for more information on APRT gene adenine phosphoribosyltransferase deficiency and to discuss the benefits and limitations of genetic testing.

Test Name APRT Gene Adenine phosphoribosyltransferase deficiency Genetic Test
Components
Price 3200.0 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 APRT Gene Adenine phosphoribosyltransferase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Adenine phosphoribosyltransferase deficiency
Test Details

APRT gene adenine phosphoribosyltransferase deficiency is a rare genetic disorder that affects the metabolism of adenine, a building block of DNA and RNA. This condition is caused by mutations in the APRT gene, which is responsible for producing the enzyme adenine phosphoribosyltransferase.

Individuals with APRT deficiency are unable to properly break down adenine, leading to the accumulation of a substance called 2,8-dihydroxyadenine (DHA) in the kidneys and urinary tract. Over time, DHA crystals can form and cause kidney stones, which can lead to kidney damage if left untreated.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of the APRT gene and identify any mutations or variations that may be present. This test can help diagnose APRT deficiency and determine the specific genetic cause of the condition.

Early diagnosis of APRT deficiency through genetic testing is important as it allows for appropriate management and treatment strategies to be implemented. Treatment options may include a low-purine diet, increased fluid intake, and medications to prevent the formation of kidney stones.

It is recommended to consult with a healthcare professional or genetic counselor for more information on APRT gene adenine phosphoribosyltransferase deficiency and to discuss the benefits and limitations of genetic testing.

SKU: TEST-2153 Category:

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