FH Gene Fumarase Deficiency NGS Genetic DNA Test
Introduction to FH Gene Fumarase Deficiency NGS Genetic DNA Test
The FH Gene Fumarase Deficiency NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to detect mutations in the fumarase gene, which can lead to fumarase deficiency. This condition is associated with various neurological and developmental issues, making early detection crucial for effective management and treatment. By utilizing Next Generation Sequencing (NGS) technology, the test provides a comprehensive analysis of the genetic material, ensuring accurate results.
What the Test Measures
This test specifically measures the presence of mutations in the FH gene, which is responsible for producing the fumarase enzyme. A deficiency in this enzyme can result in a range of symptoms, including developmental delays, intellectual disabilities, and physical dysmorphologies.
Who Should Consider This Test?
Individuals who should consider the FH Gene Fumarase Deficiency NGS Genetic DNA Test include:
- Those with a family history of fumarase deficiency or related genetic disorders.
- Patients exhibiting symptoms such as developmental delays or dysmorphic features.
- Individuals seeking genetic counseling to understand their risk of passing on genetic conditions.
Benefits of Taking the Test
The benefits of the FH Gene Fumarase Deficiency NGS Genetic DNA Test include:
- Accurate identification of genetic mutations associated with fumarase deficiency.
- Informed decision-making regarding treatment and management options.
- Enhanced understanding of family health history and potential risks for future generations.
Understanding Your Results
Once the test is completed, results will be provided to you along with guidance on what they mean. It is important to discuss your results with a healthcare professional who can interpret them in the context of your overall health and family history.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| FH Gene Fumarase Deficiency NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking Information
To book the FH Gene Fumarase Deficiency NGS Genetic DNA Test, please contact us at +2348110567037. Ensure to prepare by providing a clinical history and consider a genetic counseling session to draw a pedigree chart of affected family members.
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test includes blood or extracted DNA, or one drop of blood on an FTA card. This test is conducted under the Pediatrics specialty within the Genetics department, utilizing advanced NGS technology to ensure reliable and accurate results.
