HIBCH Gene 3-Hydroxyisobutryl-CoA Hydrolase Deficiency NGS Genetic DNA Test
Introduction
The HIBCH Gene 3-Hydroxyisobutryl-CoA Hydrolase Deficiency NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to detect mutations in the HIBCH gene, which is crucial for the metabolism of certain amino acids. This test employs Next Generation Sequencing (NGS) technology, offering a comprehensive analysis of genetic material to identify potential deficiencies that can lead to serious metabolic disorders.
What the Test Measures
This test specifically measures the presence of mutations in the HIBCH gene, which can affect the body’s ability to process 3-hydroxyisobutyrate, a byproduct of amino acid metabolism. Identifying these mutations is essential for diagnosing 3-hydroxyisobutryl-CoA hydrolase 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 developmental delays, neurological issues, or unexplained metabolic disturbances.
- Individuals who have undergone genetic counseling and have been advised to pursue genetic testing.
Benefits of Taking the Test
Taking the HIBCH Gene test offers numerous benefits:
- Early detection of genetic predispositions to metabolic disorders.
- Informed decision-making regarding family planning and management of potential health issues.
- Access to tailored treatment plans based on genetic findings.
- Peace of mind for individuals and families concerned about hereditary conditions.
Understanding Your Results
Results from the HIBCH Gene test will indicate whether mutations are present in the gene. A genetic counselor will help interpret these results, providing guidance on the implications for health and necessary follow-up actions.
Test Details
| Test Name | Price (NGN) |
|---|---|
| HIBCH Gene 3-Hydroxyisobutryl-CoA Hydrolase Deficiency NGS Genetic DNA Test | Discount Price: 400,000 NGN Regular Price: 560,000 NGN |
Booking the Test
To book the HIBCH Gene 3-Hydroxyisobutryl-CoA Hydrolase Deficiency NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with any questions and guide you through the booking process.
Pre-Test Instructions
Before taking the test, patients are advised to:
- Provide a clinical history to assess the need for testing.
- Participate in a genetic counseling session to create a pedigree chart of affected family members.
Turnaround Time and Sample Type
The expected turnaround time for results is approximately 3 to 4 weeks. Samples can be collected in the following forms:
- Blood
- Extracted DNA
- One drop of blood on an FTA card
