D2HGDH Gene D2hydroxyglutaric Aciduria Type 1 NGS Genetic DNA Test
Introduction to the Test
The D2HGDH Gene D2hydroxyglutaric Aciduria Type 1 NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the D2HGDH gene, which are responsible for D-2-hydroxyglutaric aciduria, a rare metabolic disorder. Early detection of this condition is crucial, as it can lead to significant neurological issues if left untreated. This test employs Next Generation Sequencing (NGS) technology, providing accurate and comprehensive genetic analysis.
What the Test Measures
This test specifically detects mutations in the D2HGDH gene, which can lead to elevated levels of D-2-hydroxyglutarate in the body. These elevated levels are associated with various neurological symptoms and metabolic complications.
Who Should Consider This Test?
This test is recommended for individuals who:
- Exhibit symptoms such as developmental delays, seizures, or neurological decline.
- Have a family history of metabolic disorders, particularly D-2-hydroxyglutaric aciduria.
- Are undergoing genetic counseling to understand their risk of inheriting or passing on genetic conditions.
Benefits of Taking the Test
- Early diagnosis can lead to timely intervention and management, reducing the risk of severe complications.
- Provides valuable information for family planning and genetic counseling.
- Utilizes advanced NGS technology for accurate and reliable results.
Understanding Your Results
Results from the D2HGDH Gene test will be interpreted by qualified genetic counselors and physicians. They will explain the implications of any detected mutations and guide you on the next steps for management or treatment. It is essential to have a clinical history and undergo a genetic counseling session to draw a pedigree chart of family members affected by D-2-hydroxyglutaric aciduria type 1.
Test Pricing
| Test Name | Price (KSh) |
|---|---|
| D2HGDH Gene D2hydroxyglutaric Aciduria Type 1 NGS Genetic DNA Test | Regular Price: 56,000 KSh |
| Discount Price: 40,000 KSh |
Branches and Booking
We have branches across all major cities in Kenya, providing convenient access to our diagnostic services. We also offer home sample collection services for your convenience. To book the D2HGDH Gene D2hydroxyglutaric Aciduria Type 1 NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
