DLD Gene Maple Syrup Urine Disease Type 3 NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The DLD Gene Maple Syrup Urine Disease Type 3 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic conditions. This advanced screening utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the DLD gene, which encodes the E3 component of the branched-chain alpha-keto acid dehydrogenase complex. Early detection through this comprehensive genetic analysis can significantly impact treatment outcomes and quality of life for affected individuals.
What This Test Measures and Detects
This specialized genetic test specifically targets the DLD gene, which plays a crucial role in the metabolism of branched-chain amino acids. The test identifies:
- Pathogenic variants in the DLD gene associated with Maple Syrup Urine Disease Type 3
- Single nucleotide variants (SNVs) and small insertions/deletions
- Genetic mutations affecting the E3 component of the BCKD complex
- Inheritance patterns for genetic counseling purposes
- Risk assessment for metabolic decompensation episodes
Who Should Consider This Genetic Test
This comprehensive screening is recommended for individuals experiencing:
- Unexplained neurological symptoms including seizures or developmental delays
- Family history of Maple Syrup Urine Disease or related metabolic disorders
- Characteristic sweet, maple syrup-like odor in urine, sweat, or earwax
- Feeding difficulties, vomiting, or poor weight gain in infants
- Metabolic acidosis or ketosis without clear cause
- Previous abnormal newborn screening results
- Planning for pregnancy with family history of metabolic conditions
Key Benefits of Genetic Testing
Undergoing the DLD Gene Maple Syrup Urine Disease Type 3 test provides numerous advantages:
- Early Intervention: Enables prompt dietary management and treatment before severe symptoms develop
- Accurate Diagnosis: Provides definitive genetic confirmation for proper medical management
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides development of individualized therapeutic approaches
- Proactive Monitoring: Allows for regular surveillance and preventive care strategies
- Peace of Mind: Provides clarity and reduces uncertainty about genetic risks
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and metabolic specialists:
- Positive Result: Indicates the presence of DLD gene mutations associated with Maple Syrup Urine Disease Type 3, requiring immediate consultation with a metabolic specialist
- Negative Result: Suggests no detected mutations in the DLD gene, though continued monitoring may be recommended based on clinical presentation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation and family studies
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning decisions
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | DLD Gene Maple Syrup Urine Disease Type 3 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of family members affected with Maple Syrup Urine Disease Type 3
- Previous medical records and test results
Nationwide 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. Our network of certified genetic counselors and metabolic specialists ensures you receive comprehensive care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic metabolic conditions affect your health decisions. Our advanced DLD Gene Maple Syrup Urine Disease Type 3 NGS Genetic DNA Test provides the answers you need for informed medical management and family planning. With our discounted price of $500 USD and comprehensive genetic analysis, you can gain valuable insights into your metabolic health.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
