PSAP Gene Krabbe Disease Atypical NGS Genetic DNA Test
Comprehensive Genetic Testing for Atypical Krabbe Disease
The PSAP Gene Krabbe Disease Atypical NGS Genetic DNA Test represents a significant advancement in genetic diagnostics for rare metabolic disorders. This specialized test focuses on identifying mutations in the PSAP gene, which plays a crucial role in the development of atypical Krabbe disease – a rare inherited condition affecting the nervous system’s white matter. Through state-of-the-art Next-Generation Sequencing technology, our test provides unparalleled accuracy in detecting genetic variations that may lead to this challenging condition.
What Does This Test Measure?
This comprehensive genetic analysis specifically targets the PSAP gene, which encodes prosaposin – a protein essential for proper lysosomal function. The test detects:
- Point mutations in the PSAP gene sequence
- Insertions and deletions affecting gene function
- Copy number variations that may impact protein production
- Specific genetic markers associated with atypical Krabbe disease presentation
- Novel variants that may contribute to disease development
Who Should Consider This Test?
This genetic screening is particularly recommended for individuals experiencing:
- Unexplained neurological symptoms in infancy or childhood
- Progressive muscle weakness and developmental regression
- Family history of Krabbe disease or related metabolic disorders
- Unexplained vision problems or hearing loss in young children
- Feeding difficulties and failure to thrive in infants
- Parents planning pregnancy with known family history of metabolic conditions
Key Benefits of PSAP Gene Testing
- Early Intervention: Enables proactive medical management before severe symptoms develop
- Accurate Diagnosis: Provides definitive genetic confirmation for atypical presentations
- Family Planning: Offers crucial information for reproductive decision-making
- Personalized Care: Guides targeted treatment approaches based on specific genetic findings
- Peace of Mind: Reduces uncertainty for families with concerning symptoms or family history
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. Results typically fall into three categories:
- Positive Result: Indicates the presence of PSAP gene mutations associated with atypical Krabbe disease, requiring immediate consultation with a metabolic specialist
- Negative Result: Suggests no detectable mutations in the PSAP 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
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | PSAP Gene Krabbe Disease Atypical NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Accessibility
We have conveniently located branches across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures that comprehensive genetic testing is accessible to families throughout the country.
Take Action Today
Don’t let uncertainty about genetic conditions affect your family’s future. Our team of genetic specialists is ready to provide the clarity and guidance you need. Schedule your PSAP Gene Krabbe Disease Atypical NGS Genetic DNA Test today and take the first step toward understanding your genetic health.
Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or to speak with our genetic counseling team.
