ALDH4A1 Gene Hyperprolinemia Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Health
The ALDH4A1 Gene Hyperprolinemia Type 2 NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics, utilizing advanced next-generation sequencing technology to identify specific genetic mutations associated with Hyperprolinemia Type 2. This rare inherited metabolic condition disrupts the body’s ability to properly process the amino acid proline, leading to potential neurological complications and developmental concerns.
What This Test Measures and Detects
This sophisticated genetic screening specifically targets the ALDH4A1 gene, which encodes the enzyme delta-1-pyrroline-5-carboxylate dehydrogenase. This enzyme plays a critical role in the final step of proline degradation. The test identifies:
- Pathogenic variants in the ALDH4A1 gene
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Deletions, insertions, and other structural variations
- Autosomal recessive inheritance patterns
- Carrier status for Hyperprolinemia Type 2
Who Should Consider This Genetic Test
This comprehensive genetic analysis is recommended for individuals experiencing:
- Unexplained neurological symptoms including seizures or cognitive impairment
- Developmental delays in childhood
- Family history of metabolic disorders or Hyperprolinemia
- Elevated proline levels in blood or urine tests
- Unexplained intellectual disability or learning difficulties
- Suspected inherited metabolic conditions
Key Benefits of Genetic Testing
Undergoing the ALDH4A1 Gene Hyperprolinemia Type 2 NGS Genetic DNA Test provides numerous advantages:
- Early Diagnosis: Enables prompt intervention and management strategies
- Personalized Treatment: Guides targeted therapeutic approaches
- Family Planning: Provides crucial information for genetic counseling
- Risk Assessment: Identifies carrier status for family members
- Comprehensive Analysis: Utilizes cutting-edge NGS technology for accurate results
Understanding Your Test Results
Your genetic test results will be carefully analyzed and interpreted by our expert genetic counselors and metabolic specialists. Results typically fall into three categories:
- Positive Result: Indicates the presence of pathogenic variants in the ALDH4A1 gene, confirming Hyperprolinemia Type 2 diagnosis
- Negative Result: No disease-causing mutations detected, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | ALDH4A1 Gene Hyperprolinemia Type 2 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Method | Next-Generation Sequencing (NGS) |
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 Today
Don’t let uncertainty about your metabolic health create unnecessary stress. Our ALDH4A1 Gene Hyperprolinemia Type 2 NGS Genetic DNA Test provides the clarity and confidence you need for informed healthcare decisions. Schedule your genetic counseling session and testing appointment today to begin your journey toward comprehensive metabolic health understanding.
Call or WhatsApp us now at +1(267) 388-9828 to book your ALDH4A1 Gene Hyperprolinemia Type 2 NGS Genetic DNA Test and take the first step toward personalized metabolic health management.
