MMADHC Gene Methylmalonic Aciduria CblD Type NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The MMADHC Gene Methylmalonic Aciduria CblD Type NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying inherited metabolic disorders affecting vitamin B12 metabolism. This specialized genetic test utilizes next-generation sequencing technology to detect mutations in the MMADHC gene, which plays a critical role in cobalamin processing and cellular energy production.
What This Test Measures and Detects
This advanced genetic screening specifically targets the MMADHC gene located on chromosome 2q23.2, which encodes the methylmalonic aciduria cblD type protein. The test identifies:
- Pathogenic variants and mutations in the MMADHC gene
- Single nucleotide polymorphisms affecting cobalamin metabolism
- Deletions, insertions, and copy number variations
- Genetic markers associated with impaired adenosylcobalamin synthesis
Who Should Consider This Test
This genetic screening is recommended for individuals presenting with:
- Unexplained metabolic acidosis and ketosis
- Developmental delays or neurological regression
- Failure to thrive in infancy or childhood
- Elevated methylmalonic acid levels in blood or urine
- Family history of metabolic disorders or consanguinity
- Unexplained lethargy, vomiting, or feeding difficulties
- Suspected vitamin B12 metabolism disorders
Clinical Benefits of Genetic Testing
Early detection through MMADHC gene testing provides numerous advantages:
- Accurate diagnosis enabling targeted treatment strategies
- Prevention of metabolic crises and neurological damage
- Personalized dietary and medical management plans
- Informed family planning and genetic counseling
- Improved long-term prognosis and quality of life
- Reduced diagnostic uncertainty and medical costs
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors:
- Positive Result: Indicates presence of pathogenic MMADHC mutations, confirming methylmalonic aciduria CblD type diagnosis
- Negative Result: No disease-causing variants detected in the MMADHC gene
- Variant of Uncertain Significance: Genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Identification of individuals carrying one copy of mutated gene without disease symptoms
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| MMADHC Gene Methylmalonic Aciduria CblD Type NGS Genetic DNA Test – Discount Price | $500 |
| MMADHC Gene Methylmalonic Aciduria CblD Type NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We have comprehensive testing facilities across the United States, with branches in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures convenient access to advanced genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic disorders affect your health and quality of life. Our MMADHC Gene Methylmalonic Aciduria CblD Type NGS Genetic DNA Test provides definitive answers and empowers you with critical health information. With a turnaround time of 3-4 weeks and sample collection options including blood, extracted DNA, or one drop of blood on FTA card, getting tested has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our expert genetic counselors are available to discuss your concerns and guide you through the testing process.
