RAPSN Gene Fetal Akinesia Deformation Sequence NGS Genetic DNA Test
Comprehensive Genetic Testing for Fetal Movement Disorders
The RAPSN Gene Fetal Akinesia Deformation Sequence NGS Genetic DNA Test represents a breakthrough in prenatal and pediatric genetic diagnostics. This specialized test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to analyze the RAPSN gene, which plays a critical role in neuromuscular junction development and function. Fetal akinesia deformation sequence (FADS) is a serious condition characterized by reduced fetal movement, joint contractures, and multiple congenital anomalies that can significantly impact infant development and survival.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets:
- Mutations in the RAPSN gene responsible for congenital myasthenic syndromes
- Genetic variants associated with impaired fetal movement and development
- Pathogenic changes affecting acetylcholine receptor clustering at neuromuscular junctions
- Inheritance patterns of fetal akinesia-related genetic disorders
- Risk assessment for recurrent pregnancy complications
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals and families experiencing:
- Previous pregnancies with reduced fetal movement or abnormal ultrasound findings
- Family history of congenital myasthenic syndromes or neuromuscular disorders
- Infants born with joint contractures, arthrogryposis, or respiratory difficulties
- Unexplained fetal loss or stillbirth with suspected genetic causes
- Abnormal prenatal ultrasound showing decreased fetal activity
- Parents seeking preconception genetic counseling for inherited conditions
Key Benefits of RAPSN Genetic Testing
Undergoing this specialized genetic analysis provides numerous advantages:
- Early Detection: Identify genetic risks before or during pregnancy
- Accurate Diagnosis: Provide definitive answers for unexplained fetal conditions
- Family Planning: Enable informed reproductive decisions
- Personalized Management: Guide appropriate medical interventions and care plans
- Genetic Counseling: Understand inheritance patterns and recurrence risks
- Peace of Mind: Reduce uncertainty and anxiety about genetic conditions
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and presented with comprehensive guidance:
- Positive Result: Indicates the presence of RAPSN gene mutations associated with fetal akinesia deformation sequence. Our genetic counselors will explain the implications and next steps.
- Negative Result: Suggests no detectable mutations in the RAPSN gene, though other genetic factors may still be considered.
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or research correlation.
- Carrier Status: Identifies individuals who carry one copy of a mutated gene but may not show symptoms.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | RAPSN Gene Fetal Akinesia Deformation Sequence 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 undergoing testing, we recommend:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Discussion of testing implications and potential outcomes
- Review of insurance coverage and payment options
Nationwide Accessibility
General Genetics Corporation provides comprehensive genetic testing services across the United States. We have conveniently located branches in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and medical professionals ensures you receive expert care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. The RAPSN Gene Fetal Akinesia Deformation Sequence NGS Genetic DNA Test provides the answers you need to make informed healthcare decisions. Our team of genetic specialists is ready to guide you through every step of the testing process.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take control of your genetic health with confidence and clarity.
