MMADHC Gene Methylmalonic Aciduria CblD Type NGS Genetic DNA Test
Introduction
The MMADHC Gene Methylmalonic Aciduria CblD Type NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify genetic mutations associated with methylmalonic aciduria, a rare metabolic disorder. This test utilizes Next-Generation Sequencing (NGS) technology to provide accurate and comprehensive results, enabling healthcare providers to make informed decisions regarding patient care and management.
What the Test Measures
This genetic test specifically measures mutations in the MMADHC gene, which is essential for the metabolism of vitamin B12. Abnormalities in this gene can lead to the accumulation of methylmalonic acid in the body, resulting in various health complications.
Who Should Consider This Test
Individuals who may benefit from the MMADHC Gene Methylmalonic Aciduria CblD Type NGS Genetic DNA Test include:
- Patients exhibiting symptoms of metabolic disorders, such as developmental delays, neurological issues, and unexplained acidosis.
- Individuals with a family history of methylmalonic aciduria or related metabolic conditions.
- Newborns with elevated levels of methylmalonic acid detected through newborn screening programs.
Benefits of Taking the Test
Taking the MMADHC Gene Methylmalonic Aciduria CblD Type NGS Genetic DNA Test offers several benefits:
- Early diagnosis and intervention can significantly improve patient outcomes.
- Understanding genetic predispositions allows for personalized treatment plans.
- It aids in family planning and genetic counseling for affected families.
- Provides peace of mind for patients and their families regarding their health status.
Understanding Your Results
Results from the MMADHC Gene Methylmalonic Aciduria CblD Type NGS Genetic DNA Test will be interpreted by qualified genetic counselors or physicians. They will help you understand the implications of your results, including the possibility of being a carrier of genetic mutations and the associated health risks.
Test Pricing
Test Name | Discount Price (NGN) | Regular Price (NGN) |
---|---|---|
MMADHC Gene Methylmalonic Aciduria CblD Type NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
Don’t wait to take control of your health. Book the MMADHC Gene Methylmalonic Aciduria CblD Type NGS Genetic DNA Test today. Contact us at +2348077798758 to schedule your appointment or for more information.
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: A Genetic Counseling session to draw a pedigree chart of family members affected with Methylmalonic Aciduria CblD Type is required.
This test falls under the specialty of General Physician, within the Genetics department, utilizing NGS Technology to diagnose Metabolic Disorders.