MMACHC Gene Methylmalonic Aciduria CblC Type NGS Genetic DNA Test
Introduction to the Test
The MMACHC Gene Methylmalonic Aciduria CblC Type NGS Genetic DNA Test is a specialized genetic test that plays a vital role in diagnosing Methylmalonic aciduria, a metabolic disorder caused by the deficiency of a specific enzyme. This test utilizes Next-Generation Sequencing (NGS) technology to identify mutations in the MMACHC gene, which are responsible for this condition. Early diagnosis through genetic testing is crucial for effective management and treatment of the disorder.
What the Test Measures
This genetic test measures the presence of mutations in the MMACHC gene, which can lead to the accumulation of methylmalonic acid in the body. Elevated levels of this acid can result in various health complications, including neurological issues and metabolic crises.
Who Should Consider This Test?
The MMACHC Gene Methylmalonic Aciduria CblC Type NGS Genetic DNA Test is recommended for:
- Individuals with symptoms of metabolic disorders, such as developmental delays, lethargy, or recurrent vomiting.
- Families with a history of Methylmalonic aciduria or related metabolic conditions.
- Patients undergoing genetic counseling for hereditary metabolic disorders.
Benefits of Taking the Test
Taking the MMACHC Gene Methylmalonic Aciduria CblC Type NGS Genetic DNA Test offers several benefits:
- Accurate diagnosis of Methylmalonic aciduria.
- Guidance for treatment options and dietary management.
- Informed family planning through genetic counseling.
- Early intervention to prevent severe health complications.
Understanding Your Results
Results from the MMACHC Gene Methylmalonic Aciduria CblC Type NGS Genetic DNA Test will indicate whether mutations are present in the MMACHC gene. A genetic counselor or physician will help interpret these results and discuss potential next steps, including management strategies and treatment options.
Test Name and Price
| Test Name | Discount Price | Regular Price |
|---|---|---|
| MMACHC Gene Methylmalonic Aciduria CblC Type NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Book Your Test Today
We have branches across Kenya, including Nairobi, Mombasa, and Kisumu. We also offer a convenient home sample collection service. To book the MMACHC Gene Methylmalonic Aciduria CblC Type NGS Genetic DNA Test, please call or WhatsApp us at +254711564616. Ensure your health and the health of your family by getting tested today!
