SLC25A1 Gene Combined D2 and L2-Hydroxyglutaric Aciduria NGS Genetic DNA Test
The SLC25A1 Gene Combined D2 and L2-Hydroxyglutaric Aciduria NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to detect genetic mutations associated with metabolic disorders. This test utilizes Next Generation Sequencing (NGS) technology to provide accurate and comprehensive insights into the genetic factors that may contribute to conditions such as D-2- and L-2-hydroxyglutaric aciduria.
Importance of the Test
Understanding genetic predispositions is crucial for early diagnosis and management of metabolic disorders. The SLC25A1 gene plays a significant role in cellular metabolism, and mutations can lead to severe health issues. This test not only aids in identifying at-risk individuals but also guides healthcare providers in tailoring personalized treatment plans.
What the Test Measures
This test measures mutations in the SLC25A1 gene that may lead to D-2- and L-2-hydroxyglutaric aciduria. It detects specific genetic alterations that can affect the metabolism of certain amino acids, providing crucial information about an individual’s metabolic health.
Who Should Consider This Test?
Individuals with a family history of metabolic disorders, unexplained neurological symptoms, or those who have shown signs of developmental delays should consider this test. Risk factors include:
- Family history of metabolic diseases
- Presence of neurological symptoms
- Developmental delays in children
Benefits of Taking the Test
- Early identification of genetic predispositions to metabolic disorders.
- Informed decision-making regarding treatment options.
- Guidance for family planning and genetic counseling.
- Enhanced understanding of potential health risks.
Understanding Your Results
Results from the SLC25A1 Gene Combined D2 and L2-Hydroxyglutaric Aciduria NGS Genetic DNA Test will provide insights into the presence of specific mutations. It is essential to discuss these results with a healthcare provider to understand their implications fully. Genetic counseling may also be recommended to help interpret the results in the context of family health history.
Test Pricing
| Price Type | Amount (KSh) |
|---|---|
| Discount Price | 40000 |
| Regular Price | 56000 |
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 is required, along with a genetic counseling session to draw a pedigree chart of family members affected by Combined D-2- and L-2-hydroxyglutaric aciduria.
We have branches across Kenya, and we offer a convenient home sample collection service. To book the SLC25A1 Gene Combined D2 and L2-Hydroxyglutaric Aciduria NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
