PSAT1 Gene Phosphoserine Aminotransferase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The PSAT1 Gene Phosphoserine Aminotransferase Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This advanced screening utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the PSAT1 gene, which encodes phosphoserine aminotransferase – a crucial enzyme in the serine biosynthesis pathway. 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 PSAT1 gene located on chromosome 9, analyzing it for pathogenic variants that disrupt normal enzyme function. The test detects:
- Point mutations, insertions, and deletions in the PSAT1 gene
- Variants affecting phosphoserine aminotransferase enzyme activity
- Genetic markers associated with impaired serine synthesis
- Inheritance patterns of phosphoserine aminotransferase deficiency
- Risk assessment for neurological and developmental complications
Who Should Consider This Genetic Screening
This test is particularly recommended for individuals presenting with:
- Unexplained neurological symptoms including seizures or microcephaly
- Developmental delays or intellectual disability of unknown origin
- Family history of phosphoserine aminotransferase deficiency
- Consanguineous parents or siblings with similar symptoms
- Abnormal amino acid profiles suggesting serine deficiency
- Progressive neurological deterioration in infancy or childhood
- Failed metabolic screening tests requiring genetic confirmation
Significant Benefits of Early Detection
Undergoing the PSAT1 Gene Phosphoserine Aminotransferase Deficiency test offers multiple advantages:
- Early Intervention: Enables prompt treatment initiation to prevent neurological damage
- Accurate Diagnosis: Provides definitive genetic confirmation of the condition
- Family Planning: Assists in genetic counseling and reproductive decision-making
- Personalized Treatment: Guides targeted therapeutic approaches including serine supplementation
- Prognostic Information: Helps predict disease progression and potential complications
- Reduced Diagnostic Odyssey: Minimizes unnecessary testing and medical expenses
Understanding Your Test Results
Your genetic test report will provide comprehensive information about your PSAT1 gene status:
- Positive Result: Indicates the presence of pathogenic variants confirming phosphoserine aminotransferase deficiency, requiring immediate medical consultation
- Negative Result: Suggests no detected mutations in the PSAT1 gene, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical impact, necessitating further evaluation
- Carrier Status: Reveals if you carry one copy of the mutated gene without showing symptoms
All results should be interpreted by qualified genetic specialists who can provide personalized recommendations based on your specific genetic findings and clinical presentation.
Test Pricing and Availability
| Test Description | Price (USD) |
|---|---|
| PSAT1 Gene Phosphoserine Aminotransferase Deficiency NGS Genetic DNA Test – Discount Price | $500 |
| PSAT1 Gene Phosphoserine Aminotransferase Deficiency NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic metabolic disorders affect your quality of life. Our expert genetic counselors and medical professionals are ready to guide you through the testing process and help interpret your results. Early detection of phosphoserine aminotransferase deficiency can make a significant difference in treatment outcomes and long-term neurological health.
Schedule your PSAT1 Gene Phosphoserine Aminotransferase Deficiency NGS Genetic DNA Test today by calling our dedicated genetic testing hotline at +1(267) 388-9828 or book your appointment online through our secure patient portal. Take the first step toward definitive diagnosis and personalized care.
