TPI1 Gene Triosephosphate Isomerase Deficiency NGS Genetic DNA Test
Introduction
The TPI1 Gene Triosephosphate Isomerase Deficiency NGS Genetic DNA Test is a cutting-edge diagnostic tool that identifies genetic mutations associated with Triosephosphate Isomerase Deficiency (TPI deficiency). This rare metabolic disorder affects the body’s ability to convert sugars into energy, leading to various health complications. Early diagnosis through this test is crucial for effective management and treatment.
What the Test Measures
This genetic test utilizes Next-Generation Sequencing (NGS) technology to analyze the TPI1 gene. It detects specific mutations that can result in TPI deficiency, helping healthcare providers understand the underlying genetic factors contributing to a patient’s condition.
Who Should Consider This Test
- Individuals with a family history of metabolic disorders.
- Patients exhibiting symptoms such as hemolytic anemia, neurological issues, or developmental delays.
- Those who have undergone genetic counseling and are advised to pursue genetic testing.
Benefits of Taking the Test
- Accurate diagnosis of TPI deficiency, allowing for targeted treatment options.
- Helps in understanding the genetic basis of the condition, which can inform family planning.
- Provides critical information for managing symptoms and improving quality of life.
Understanding Your Results
Results from the TPI1 Gene Triosephosphate Isomerase Deficiency NGS Genetic DNA Test will typically be available within 3 to 4 weeks. A genetic counselor will assist in interpreting the results, explaining the implications for treatment and management of the condition.
Test Pricing
Price Type | Amount (NGN) |
---|---|
Discount Price | 400000 NGN |
Regular Price | 560000 NGN |
Book Your Test Today!
To take the first step towards understanding your genetic health, book the TPI1 Gene Triosephosphate Isomerase Deficiency NGS Genetic DNA Test today. For inquiries or to schedule your test, please call or WhatsApp us at +2348110567037.
Pre-Test Instructions
Before undergoing the test, ensure to provide a detailed clinical history. A genetic counseling session is recommended to draw a pedigree chart of family members affected by Triosephosphate Isomerase Deficiency.
Sample Type
The test can be conducted using a blood sample, extracted DNA, or one drop of blood on an FTA card.
Specialty and Department
This test falls under the specialty of General Physician and the department of Genetics, focusing on metabolic disorders.