DBT Gene Maple Syrup Urine Disease Type 2 NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The DBT Gene Maple Syrup Urine Disease Type 2 NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics, offering precise detection of genetic mutations associated with this rare inherited condition. Maple Syrup Urine Disease (MSUD) Type 2 is an autosomal recessive disorder characterized by the body’s inability to properly break down branched-chain amino acids, leading to potentially life-threatening metabolic crises if left undiagnosed.
What This Advanced Genetic Test Detects
This sophisticated NGS-based test specifically targets mutations in the DBT (dihydrolipoamide branched-chain transacylase) gene, which encodes a critical component of the branched-chain alpha-keto acid dehydrogenase complex. The test identifies:
- Point mutations and small insertions/deletions in the DBT gene
- Compound heterozygous and homozygous variants
- Pathogenic mutations affecting enzyme function
- Genetic variants associated with different clinical presentations
- Carrier status for autosomal recessive inheritance
Who Should Consider This Genetic Screening
This test is particularly recommended for individuals presenting with:
- Newborns with characteristic sweet, maple syrup-like odor in urine
- Infants showing poor feeding, vomiting, and lethargy
- Children with developmental delays or neurological symptoms
- Individuals with family history of MSUD or metabolic disorders
- Parents planning pregnancy with known family risk factors
- Unexplained metabolic acidosis or ketosis episodes
Significant Benefits of Early Detection
Early identification through genetic testing provides numerous advantages:
- Enables immediate dietary intervention and specialized nutrition plans
- Prevents severe neurological damage and developmental delays
- Allows for personalized treatment strategies based on genetic profile
- Provides accurate genetic counseling for family planning
- Reduces risk of metabolic crises and hospitalizations
- Offers peace of mind through definitive diagnosis
Understanding Your Genetic Test Results
Your test results will be carefully interpreted by our genetic specialists:
- Positive Result: Indicates presence of pathogenic DBT gene mutations confirming MSUD Type 2 diagnosis
- Negative Result: Suggests absence of known pathogenic variants in the DBT gene
- Variant of Uncertain Significance: Requires additional clinical correlation and family studies
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
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 network of certified genetic counseling centers ensures accessible care regardless of your location.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need about potential metabolic disorders. Our advanced DBT Gene Maple Syrup Urine Disease Type 2 NGS Genetic DNA Test provides the clarity and certainty required for proper medical management. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card blood spots, getting tested has never been more convenient.
Call us now at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results for better health outcomes.
