ALDH6A1 Gene Methylmalonate Semialdehyde Dehydrogenase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The ALDH6A1 Gene Methylmalonate Semialdehyde Dehydrogenase Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This advanced test specifically targets the ALDH6A1 gene, which plays a crucial role in amino acid metabolism and energy production within the body’s cells.
What This Test Measures and Detects
This sophisticated genetic analysis utilizes Next-Generation Sequencing (NGS) technology to identify mutations in the ALDH6A1 gene that are responsible for methylmalonate semialdehyde dehydrogenase deficiency. The test examines:
- Specific genetic variations in the ALDH6A1 gene
- Point mutations, deletions, and insertions affecting enzyme function
- Inheritance patterns of metabolic disorders
- Risk assessment for family members
Who Should Consider This Test
This genetic test is recommended for individuals experiencing symptoms or with family histories suggesting metabolic disorders:
- Infants and children with developmental delays or failure to thrive
- Individuals with unexplained metabolic acidosis
- Patients with recurrent episodes of vomiting and lethargy
- Those with abnormal organic acid profiles in urine tests
- Family members of individuals diagnosed with ALDH6A1 deficiency
- Couples with family histories of metabolic disorders planning pregnancy
Key Benefits of Genetic Testing
Undergoing the ALDH6A1 genetic test provides numerous advantages for patients and healthcare providers:
- Early Diagnosis: Enables prompt identification of metabolic disorders before severe complications develop
- Personalized Treatment: Guides targeted therapeutic interventions and dietary modifications
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Proactive Management: Allows for preventive care strategies and monitoring protocols
- Peace of Mind: Reduces uncertainty and provides clarity for affected families
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your test results effectively:
- Positive Result: Indicates the presence of ALDH6A1 gene mutations, confirming diagnosis and guiding treatment
- Negative Result: Suggests absence of tested mutations, though other genetic factors may require evaluation
- Variant of Unknown Significance: Identifies genetic changes requiring further research and monitoring
- Carrier Status: Determines if you carry one copy of a mutated gene without showing symptoms
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | ALDH6A1 Gene Methylmalonate Semialdehyde Dehydrogenase Deficiency 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 affected family members with similar symptoms
- Previous metabolic testing results if available
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and healthcare professionals ensures accessible, high-quality care regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic disorders affect your quality of life. Our ALDH6A1 genetic test provides the answers you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can gain valuable insights into your metabolic health and inheritance patterns.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and ensuring the best possible outcomes for you and your family.
