ABCD4 Gene Methylmalonic Aciduria CblJ Type NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The ABCD4 Gene Methylmalonic Aciduria CblJ Type NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing rare inherited metabolic conditions. This advanced genetic screening utilizes next-generation sequencing technology to identify mutations in the ABCD4 gene, which plays a critical role in cobalamin (vitamin B12) metabolism and intracellular processing.
What This Test Measures and Detects
This sophisticated genetic analysis specifically targets the ABCD4 gene, which encodes a protein essential for the proper intracellular trafficking and processing of cobalamin. The test detects:
- Pathogenic variants in the ABCD4 gene associated with methylmalonic aciduria
- Single nucleotide polymorphisms affecting cobalamin metabolism
- Deletion and duplication mutations impacting gene function
- Compound heterozygous mutations causing metabolic dysfunction
Who Should Consider This Genetic Test
This comprehensive screening is recommended for individuals presenting with:
- Unexplained metabolic acidosis and elevated methylmalonic acid levels
- Developmental delays or neurological regression in infancy or childhood
- Recurrent vomiting, lethargy, and feeding difficulties
- Family history of methylmalonic aciduria or related metabolic disorders
- Abnormal newborn screening results suggesting metabolic abnormalities
- Progressive neurological symptoms without clear diagnosis
Clinical Benefits of Genetic Testing
Undergoing the ABCD4 Gene Methylmalonic Aciduria CblJ Type NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Provides definitive identification of the underlying genetic cause
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates prompt management to prevent metabolic crises
- Prognostic Insights: Helps predict disease progression and potential complications
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and metabolic specialists:
- Positive Result: Indicates identified pathogenic variants in the ABCD4 gene, confirming diagnosis of methylmalonic aciduria CblJ type
- Negative Result: Suggests no detectable mutations in the ABCD4 gene, though other metabolic disorders may need consideration
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who carry one copy of the mutation without showing symptoms
Test Pricing and Availability
| 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, and San Jose. Our comprehensive network ensures accessible genetic testing services for patients nationwide.
Take Control of Your Metabolic Health
Don’t let unexplained symptoms compromise your quality of life. Our ABCD4 Gene Methylmalonic Aciduria CblJ Type NGS Genetic DNA Test provides the clarity needed for effective management of metabolic disorders. With results available in 3-4 weeks and expert genetic counseling included, you’ll receive comprehensive support throughout your diagnostic journey.
Ready to begin your genetic testing journey? Contact our genetic specialists today at +1(267) 388-9828 to schedule your appointment or book your test online. Take the first step toward understanding your metabolic health and accessing personalized treatment options.
