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 mutations in the MMADHC gene, which are responsible for Methylmalonic Aciduria (MMA) CblD type. This condition is a metabolic disorder linked to vitamin B12 deficiency, leading to serious health complications if not diagnosed and managed promptly.
What the Test Measures
This test detects mutations in the MMADHC gene, which is crucial for the metabolism of certain amino acids and lipids. By identifying these mutations, healthcare providers can diagnose MMA CblD type effectively, allowing for timely intervention and management.
Who Should Consider This Test
Individuals who exhibit symptoms such as:
- Developmental delays
- Neurological issues
- Recurrent vomiting
- Failure to thrive in infants
Those with a family history of metabolic disorders or who have undergone genetic counseling should also consider this test.
Benefits of Taking the Test
- Early diagnosis of metabolic disorders
- Informed treatment planning and management
- Helps in understanding genetic risks for family members
- Utilizes advanced NGS technology for accurate results
Understanding Your Results
Results from the MMADHC Gene Methylmalonic Aciduria CblD Type NGS Genetic DNA Test will inform you about the presence of mutations in the MMADHC gene. A genetic counselor can help interpret these results and discuss potential implications for treatment and family planning.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| MMADHC Gene Methylmalonic Aciduria CblD Type NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Branches and Home Sample Collection
We have branches across all major cities in Kenya, including Nairobi, Mombasa, and Kisumu. Additionally, we offer home sample collection services for your convenience.
Book the Test
Don’t wait to get the answers you need. Book the MMADHC Gene Methylmalonic Aciduria CblD Type NGS Genetic DNA Test today! Call or WhatsApp us at +254711564616 to schedule your appointment.
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, and a genetic counseling session may be necessary to draw a pedigree chart of family members affected with Methylmalonic Aciduria CblD type.
