NDUFA12 Gene Leigh Syndrome Due to Mitochondrial Complex I Deficiency NGS Genetic DNA Test
Introduction
The NDUFA12 Gene Leigh Syndrome due to Mitochondrial Complex I Deficiency NGS Genetic DNA Test is a vital diagnostic tool that helps identify genetic mutations related to Leigh syndrome, a severe neurological disorder. This test utilizes Next Generation Sequencing (NGS) technology to provide comprehensive insights into mitochondrial function, which is crucial for energy production in cells.
What the Test Measures
This test detects mutations in the NDUFA12 gene, which is essential for the proper functioning of mitochondrial complex I. Identifying these mutations can help in understanding the underlying causes of Leigh syndrome and related neurological disorders.
Who Should Consider This Test
Individuals exhibiting symptoms of Leigh syndrome, such as developmental delays, neurological deficits, or unexplained metabolic issues, should consider this test. Additionally, those with a family history of mitochondrial disorders or related symptoms are encouraged to seek testing.
Benefits of Taking the Test
- Provides accurate diagnosis of NDUFA12 gene mutations.
- Guides treatment options and management strategies for affected individuals.
- Helps in understanding the hereditary nature of the condition.
- Offers peace of mind through genetic counseling and family planning.
Understanding Your Results
Results from the NDUFA12 Gene Leigh Syndrome test will typically be available within 3 to 4 weeks. A genetic counselor will assist in interpreting the results, providing guidance on the implications for you and your family.
Test Pricing
Price Type | Amount (KSh) |
---|---|
Discount Price | 40,000 |
Regular Price | 56,000 |
Sample Type and Pre-Test Instructions
Sample type for this test can be blood, extracted DNA, or one drop of blood on an FTA card. Prior to testing, a clinical history of the patient is required, along with a genetic counseling session to draw a pedigree chart of family members affected with NDUFA12 gene Leigh syndrome.
Book Your Test Today!
We have branches across Kenya, making it easy for you to access this essential test. To book the NDUFA12 Gene Leigh Syndrome due to Mitochondrial Complex I Deficiency NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.