ADSL Gene Adenylosuccinase Deficiency NGS Genetic DNA Test
Introduction
The ADSL Gene Adenylosuccinase Deficiency NGS Genetic DNA Test is a crucial diagnostic tool for identifying adenylosuccinase deficiency, a rare metabolic disorder. This test utilizes Next Generation Sequencing (NGS) technology to analyze the ADSL gene, which plays a vital role in purine metabolism. Understanding the genetic basis of this condition is essential for effective management and treatment.
What the Test Measures
This genetic test detects mutations in the ADSL gene that may lead to adenylosuccinase deficiency. By identifying these mutations, healthcare providers can better understand the patient’s condition and tailor treatment plans accordingly.
Who Should Consider This Test
This test is recommended for individuals who exhibit symptoms of metabolic disorders, particularly those with a family history of adenylosuccinase deficiency. Common symptoms may include:
- Neurological issues
- Developmental delays
- Behavioral problems
- Recurrent infections
Additionally, individuals with risk factors such as a known family history of metabolic disorders should consider this test.
Benefits of Taking the Test
- Early diagnosis of adenylosuccinase deficiency.
- Informed treatment decisions based on genetic findings.
- Guidance for family planning and genetic counseling.
- Improved understanding of the condition and management options.
Understanding Your Results
Results from the ADSL Gene Adenylosuccinase Deficiency NGS Genetic DNA Test will typically be available within 3 to 4 weeks. A healthcare professional will provide guidance on interpreting the results, including any identified mutations and their implications for treatment. It is essential to discuss these results with a genetic counselor or a physician specializing in metabolic disorders.
Test Pricing
Price Type | Amount (NGN) |
---|---|
Discount Price | 400,000 NGN |
Regular Price | 560,000 NGN |
Book Your Test Today
To schedule your ADSL Gene Adenylosuccinase Deficiency NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with the booking process and answer any questions you may have.