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 vital diagnostic tool for identifying metabolic disorders associated with the HIBCH gene. This test employs Next-Generation Sequencing (NGS) technology, which provides a comprehensive analysis of the genetic variations that may lead to hydroxyisobutyrate accumulation, a marker of metabolic dysfunction.
What the Test Measures
This genetic test detects mutations in the HIBCH gene, which is responsible for encoding the enzyme 3-hydroxyisobutryl-CoA hydrolase. Deficiencies in this enzyme can lead to serious metabolic disorders, impacting the body’s ability to process certain substances effectively.
Who Should Consider This Test
Individuals who exhibit symptoms of metabolic disorders, such as:
- Unexplained developmental delays
- Neurological symptoms
- Abnormal metabolic profiles
Family history of metabolic disorders may also be a significant risk factor, making this test essential for at-risk individuals.
Benefits of Taking the Test
Taking the HIBCH Gene test can provide numerous benefits, including:
- Accurate diagnosis of metabolic disorders
- Informed health management and treatment options
- Peace of mind for patients and their families
- Guidance for genetic counseling and family planning
Understanding Your Results
Results from the HIBCH Gene test will be interpreted by our expert geneticists. A clear explanation will be provided, detailing any genetic variations found and their implications for health. It is essential to discuss results with a healthcare provider for comprehensive understanding and next steps.
Test Name and Price
| Test Name | Discount Price | Regular Price |
|---|---|---|
| HIBCH Gene 3-Hydroxyisobutryl-CoA Hydrolase Deficiency NGS Genetic DNA Test | KSh 40,000 | KSh 56,000 |
Branches and Booking
We have branches across Kenya, including major cities like Nairobi, Mombasa, and Kisumu. We also offer home sample collection services for your convenience. To book the HIBCH Gene 3-Hydroxyisobutryl-CoA Hydrolase Deficiency NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
Pre-Test Instructions
Before taking the test, it is essential to provide a clinical history. We recommend a genetic counseling session to draw a pedigree chart of family members affected by 3-hydroxyisobutryl-CoA hydrolase deficiency.
Sample Type and Turnaround Time
The sample type required for this test can be:
- Blood
- Extracted DNA
- One drop of blood on an FTA card
The expected turnaround time for results is approximately 3 to 4 weeks.
