AASS Gene Saccharopinuria NGS Genetic DNA Test
Introduction to the AASS Gene Saccharopinuria NGS Genetic DNA Test
The AASS Gene Saccharopinuria NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the AASS gene, which are responsible for saccharopinuria, a rare metabolic disorder. This test utilizes Next-Generation Sequencing (NGS) technology to provide a comprehensive analysis of the genetic material, ensuring accurate results that can help guide clinical decisions and family planning.
What the Test Measures
This genetic test specifically measures the presence of mutations in the AASS gene, which is crucial for the metabolism of certain amino acids. By detecting these mutations, healthcare providers can diagnose saccharopinuria and assess the risk of related metabolic disorders.
Who Should Consider This Test?
Individuals who may benefit from the AASS Gene Saccharopinuria NGS Genetic DNA Test include:
- Patients exhibiting symptoms of metabolic disorders, such as failure to thrive, developmental delays, or neurological issues.
- Individuals with a family history of saccharopinuria or related metabolic conditions.
- Parents planning for future children who wish to understand their genetic risks.
Benefits of Taking the Test
Taking the AASS Gene Saccharopinuria NGS Genetic DNA Test offers numerous benefits:
- Accurate Diagnosis: Provides clarity on whether a genetic mutation is present, aiding in the diagnosis of metabolic disorders.
- Informed Decisions: Helps patients and families make informed choices regarding treatment and management of the condition.
- Family Planning: Assists in understanding genetic risks for future offspring, allowing for better family planning.
- Access to Specialized Care: Facilitates referrals to genetic counselors and specialists for comprehensive care.
Understanding Your Results
Once the test is completed, results will be provided with detailed explanations. It is important to discuss these results with a healthcare provider who can interpret the findings in the context of your health and family history. Understanding your results is crucial for managing any identified conditions and making informed health decisions.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| AASS Gene Saccharopinuria NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
How to Book the Test
Booking your AASS Gene Saccharopinuria NGS Genetic DNA Test is easy! Contact us today to schedule your appointment. For any inquiries, feel free to call or WhatsApp us at +2348110567037. Our team is ready to assist you with the booking process and provide any additional information you may need.
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood
Pre-Test Instructions: A clinical history of the patient is required, along with a genetic counseling session to draw a pedigree chart of family members affected with saccharopinuria.
Specialty: General Physician
Department: Genetics
Method: NGS Technology
Disease Type: Metabolic Disorders
