PAH Gene Phenylketonuria NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Health
The PAH Gene Phenylketonuria NGS Genetic DNA Test represents a breakthrough in preventive healthcare, offering advanced genetic analysis for one of the most common inherited metabolic disorders. Phenylketonuria (PKU) affects approximately 1 in 10,000 to 15,000 newborns in the United States, making early detection crucial for preventing serious health complications.
What This Test Measures and Detects
This sophisticated genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the PAH (phenylalanine hydroxylase) gene, which is responsible for converting the amino acid phenylalanine into tyrosine. The test identifies:
- Point mutations in the PAH gene coding regions
- Small insertions and deletions affecting gene function
- Genetic variations that impact enzyme activity
- Specific mutations associated with different PKU severity levels
- Carrier status for autosomal recessive inheritance patterns
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals experiencing or at risk for:
- Newborns with positive newborn screening results
- Unexplained developmental delays in infants and children
- Neurological symptoms including seizures or tremors
- Musty odor in breath, skin, or urine
- Fair skin and blue eyes with intellectual disability
- Behavioral and psychiatric problems
- Family history of PKU or metabolic disorders
- Couples planning pregnancy with known PKU risk factors
Significant Benefits of Early Detection
Early identification through genetic testing provides numerous advantages:
- Prevention of Intellectual Disability: Timely dietary management can prevent the severe neurological damage associated with untreated PKU
- Personalized Treatment Planning: Results guide specific dietary restrictions and medical management
- Reproductive Planning: Enables informed family planning decisions
- Reduced Healthcare Costs: Early intervention significantly decreases long-term medical expenses
- Improved Quality of Life: Proper management allows normal development and life expectancy
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
- Positive Result: Indicates presence of PAH gene mutations requiring immediate dietary management and medical follow-up
- Carrier Status: Identifies individuals who carry one copy of the mutated gene but typically don’t show symptoms
- Negative Result: Suggests low probability of developing classical PKU, though continued monitoring may be recommended
- Variant of Unknown Significance: Some genetic changes require additional clinical correlation
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | PAH Gene Phenylketonuria 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 |
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 healthcare professionals ensures you receive comprehensive support throughout the testing process.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need for proactive health management. Our experienced team is ready to guide you through the genetic testing process with compassion and expertise.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your PAH Gene Phenylketonuria NGS Genetic DNA Test and take the first step toward understanding your metabolic health.
Early detection through advanced genetic screening can make all the difference in preventing serious complications and ensuring optimal health outcomes. Trust the leaders in genetic diagnostics to provide you with accurate, reliable results and comprehensive support.
