ECHS1 Gene Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency NGS Genetic DNA Test
Introduction to the Test
The ECHS1 Gene Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency NGS Genetic DNA Test is a crucial diagnostic tool used to identify mutations in the ECHS1 gene, which are associated with various neurological disorders. Understanding these genetic factors is essential for patients and their families, as it aids in the diagnosis and management of conditions related to mitochondrial dysfunction.
What the Test Measures
This test specifically measures the presence of mutations in the ECHS1 gene, which encodes an enzyme involved in mitochondrial fatty acid metabolism. By utilizing Next-Generation Sequencing (NGS) technology, the test provides a comprehensive analysis of the gene, ensuring accurate detection of any abnormalities.
Who Should Consider This Test?
Individuals who exhibit symptoms related to neurological disorders, such as developmental delays, muscle weakness, or seizures, should consider this test. Additionally, those with a family history of mitochondrial disorders or specific risk factors may benefit from genetic counseling and testing.
Benefits of Taking the Test
- Early and accurate diagnosis of ECHS1 gene mutations.
- Informed health management and treatment options.
- Understanding potential risks for family members.
- Guidance from healthcare professionals based on genetic findings.
Understanding Your Results
Results from the ECHS1 Gene Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency NGS Genetic DNA Test will typically be available within 3 to 4 weeks. A genetic counselor will assist in interpreting the results, explaining what they mean for your health and potential treatment options.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
ECHS1 Gene Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Book Your Test Today!
We have branches across all major cities in Kenya and offer home sample collection services for your convenience. To book the ECHS1 Gene Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.