CD320 Gene Methylmalonic Aciduria CblR Type NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The CD320 Gene Methylmalonic Aciduria CblR Type NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying inherited metabolic disorders. This specialized test focuses on the CD320 gene, which plays a crucial role in cellular vitamin B12 metabolism. Methylmalonic aciduria CblR type is a rare autosomal recessive condition that affects the body’s ability to process certain proteins and fats properly, leading to potentially serious health complications if left undiagnosed.
What This Test Measures and Detects
This advanced genetic test specifically targets mutations in the CD320 gene using next-generation sequencing (NGS) technology. The CD320 gene encodes for the transcobalamin receptor, which is essential for the cellular uptake of vitamin B12. When mutations occur in this gene, it disrupts the normal metabolic pathways, leading to the accumulation of methylmalonic acid and other toxic substances in the body.
- Identifies specific genetic variants in the CD320 gene
- Detects point mutations, deletions, and insertions
- Provides comprehensive analysis of the entire coding region
- Assesses genetic predisposition to methylmalonic aciduria
Who Should Consider This Test
This genetic test is particularly recommended for individuals displaying symptoms suggestive of metabolic disorders or those with relevant family history. Key indications include:
- Infants and children with unexplained metabolic acidosis
- Individuals with recurrent vomiting, lethargy, or failure to thrive
- Patients with developmental delays or neurological symptoms
- Those with family history of methylmalonic aciduria or related metabolic disorders
- Individuals with abnormal newborn screening results
- Patients with unexplained anemia or hematological abnormalities
Clinical Benefits of Genetic Testing
Early and accurate diagnosis through CD320 gene testing offers numerous clinical advantages for patients and healthcare providers:
- Enables precise diagnosis and appropriate treatment planning
- Facilitates early intervention to prevent metabolic crises
- Guides dietary management and vitamin B12 supplementation
- Provides valuable information for family planning decisions
- Reduces diagnostic uncertainty and unnecessary medical procedures
- Supports personalized medical care based on genetic profile
Understanding Your Test Results
Test results are typically available within 3-4 weeks and will be thoroughly explained during a genetic counseling session. The report will indicate whether pathogenic mutations were detected in the CD320 gene:
- Positive Result: Indicates the presence of disease-causing mutations, confirming the diagnosis of methylmalonic aciduria CblR type
- Negative Result: Suggests no pathogenic variants were found in the CD320 gene
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance is currently unknown
All positive results should be confirmed through additional testing methods, and comprehensive genetic counseling is recommended to fully understand the implications for the patient and family members.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take Action Today
Don’t let uncertainty about metabolic health concerns affect your quality of life. The CD320 Gene Methylmalonic Aciduria CblR Type NGS Genetic DNA Test provides the clarity needed for informed medical decisions. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or book your test online. Early diagnosis can make a significant difference in managing metabolic disorders effectively.
