MMAB Gene Methylmalonic Aciduria CblB Type NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The MMAB Gene Methylmalonic Aciduria CblB Type NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited metabolic disorders. This advanced screening utilizes next-generation sequencing technology to identify mutations in the MMAB gene, which plays a critical role in vitamin B12 metabolism and cellular energy production.
What This Test Measures and Detects
This sophisticated genetic analysis specifically targets the MMAB gene, which encodes the enzyme adenosylcobalamin transferase. The test identifies:
- Pathogenic variants and mutations in the MMAB gene
- Single nucleotide polymorphisms affecting vitamin B12 processing
- Genetic markers associated with methylmalonic aciduria type CblB
- Inheritance patterns for family genetic counseling
- Risk assessment for metabolic crisis episodes
Who Should Consider This Test
This genetic screening is recommended for individuals presenting with:
- Unexplained metabolic acidosis or ketosis in infancy
- Developmental delays and neurological symptoms
- Failure to thrive and feeding difficulties
- Family history of methylmalonic aciduria
- Elevated methylmalonic acid levels in blood or urine
- Suspected vitamin B12 metabolism disorders
- Previous siblings with metabolic disorders
Key Benefits of Genetic Testing
Early detection through MMAB gene testing provides numerous advantages:
- Enables prompt intervention and treatment planning
- Facilitates personalized dietary management strategies
- Provides accurate genetic counseling for family planning
- Reduces risk of metabolic emergencies and complications
- Improves long-term developmental outcomes
- Guides appropriate vitamin B12 therapy selection
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors:
- Positive Result: Indicates presence of MMAB gene mutations requiring immediate medical management and dietary intervention
- Negative Result: Suggests normal MMAB gene function, though clinical correlation is essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our comprehensive network ensures accessible genetic testing services for families nationwide.
Take Action for Better Health
Don’t wait to get the answers you need for proper diagnosis and treatment. Early genetic testing can make a significant difference in managing methylmalonic aciduria and preventing serious complications. Our experienced genetic counselors are available to discuss your results and provide personalized guidance.
Book your MMAB Gene Methylmalonic Aciduria CblB Type NGS Genetic DNA Test today by calling our dedicated healthcare line at +1(267) 388-9828 or schedule your appointment online. Take the first step toward comprehensive genetic health assessment and personalized care planning.
