HADHA Gene Trifunctional Protein Deficiency NGS Genetic DNA Test
Introduction
The HADHA Gene Trifunctional Protein Deficiency NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the HADHA gene that can lead to metabolic disorders. This test employs Next-Generation Sequencing (NGS) technology, which allows for comprehensive analysis of genetic material, ensuring accurate results and a deeper understanding of genetic health.
Importance of the Test
Understanding your genetic predisposition to metabolic disorders is crucial for early diagnosis and management. The HADHA gene plays a vital role in fatty acid metabolism, and mutations can result in serious health complications. This test not only aids in diagnosis but also provides valuable information for family planning and management of potential health issues.
What the Test Measures
This genetic test specifically measures the presence of mutations in the HADHA gene, which is responsible for encoding a protein involved in the mitochondrial fatty acid oxidation pathway. By analyzing the genetic code, the test can detect variations that may lead to trifunctional protein deficiency.
Who Should Consider This Test
Individuals who may benefit from this test include:
- Those with a family history of metabolic disorders.
- Patients exhibiting symptoms such as hypoglycemia, muscle weakness, or liver dysfunction.
- Individuals seeking genetic counseling for family planning.
Benefits of Taking the Test
- Early detection of genetic mutations can lead to timely interventions.
- Provides clarity for families with a history of metabolic disorders.
- Guides healthcare providers in tailoring management plans for affected individuals.
- Facilitates informed decision-making regarding family planning.
Understanding Your Results
Upon receiving your results, it is essential to consult with a healthcare professional for interpretation. Results may indicate:
- Presence of mutations, requiring further clinical evaluation.
- Normal findings, suggesting no identified genetic risk.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| HADHA Gene Trifunctional Protein Deficiency NGS Genetic DNA Test | 400,000 | 560,000 |
Booking the Test
To book the HADHA Gene Trifunctional Protein Deficiency NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you through the booking process and answer any questions you may have.
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-test Instructions: A clinical history of the patient who is going for the test and a genetic counseling session to draw a pedigree chart of family members affected with trifunctional protein deficiency is required.
This test is performed under the specialty of General Physician, within the department of Genetics, utilizing NGS technology to aid in the diagnosis of metabolic disorders.
