GBA Gene Gaucher Disease Perinatal Lethal NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Metabolic Disorders
The GBA Gene Gaucher Disease Perinatal Lethal NGS Genetic DNA Test represents a breakthrough in prenatal and perinatal genetic diagnostics. This advanced screening utilizes next-generation sequencing technology to identify mutations in the GBA gene that cause the most severe form of Gaucher disease—a condition that typically proves fatal in the perinatal period. Early detection through this comprehensive genetic analysis provides families with critical information for medical decision-making and future family planning.
What This Test Measures and Detects
This sophisticated genetic test specifically targets the GBA gene, which encodes the enzyme glucocerebrosidase. Through NGS technology, the test identifies:
- Point mutations, deletions, and insertions in the GBA gene
- Specific genetic variants associated with perinatal lethal Gaucher disease
- Compound heterozygous mutations that lead to severe disease presentation
- Novel genetic changes that may not be detected through conventional testing methods
The test’s comprehensive approach ensures detection of both common and rare mutations, providing a complete genetic profile for accurate diagnosis and risk assessment.
Who Should Consider This Genetic Test
This test is particularly important for individuals and families with:
- Family history of Gaucher disease, especially perinatal lethal cases
- Previous pregnancies affected by unexplained perinatal mortality
- Carrier status for Gaucher disease in one or both parents
- Ethnic backgrounds with higher prevalence of Gaucher disease mutations
- Plans for family expansion with concerns about genetic inheritance
- Unexplained fetal abnormalities detected during pregnancy
Clinical Symptoms and Indications
Perinatal lethal Gaucher disease typically presents with:
- Severe fetal hydrops (fluid accumulation)
- Ichthyosis (scaly skin) and collodion membrane at birth
- Hepatosplenomegaly (enlarged liver and spleen)
- Neurological deterioration shortly after birth
- Respiratory distress and feeding difficulties
- Progressive organ failure in the neonatal period
Benefits of GBA Gene Genetic Testing
Early Intervention and Planning
Genetic testing provides families with the knowledge needed to make informed decisions about pregnancy management, delivery planning, and potential neonatal care requirements. Early identification allows for coordinated care with specialists familiar with this rare condition.
Accurate Genetic Counseling
With precise genetic information, families can receive targeted genetic counseling about recurrence risks, inheritance patterns, and reproductive options. This empowers informed family planning decisions.
Research and Family Support
Positive test results connect families with specialized support networks, research opportunities, and clinical trials that may offer hope for future treatments and management strategies.
Understanding Your Test Results
Positive Results
A positive result indicates the presence of GBA gene mutations associated with perinatal lethal Gaucher disease. Our genetic counselors will provide comprehensive interpretation and discuss:
- Specific mutation details and their clinical significance
- Inheritance patterns and recurrence risks
- Available management options and supportive care
- Connections to specialized medical centers
Negative Results
A negative result significantly reduces the likelihood of perinatal lethal Gaucher disease in the tested individual. However, genetic counseling is still recommended to discuss residual risks and alternative diagnostic considerations.
Variant of Uncertain Significance
In some cases, the test may identify genetic changes with unknown clinical significance. Our team provides ongoing monitoring and reclassification as new research emerges.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | GBA Gene Gaucher Disease Perinatal Lethal 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) |
Pre-Test Requirements
Before undergoing testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create a detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process
Nationwide Accessibility
We have diagnostic centers conveniently located throughout the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services for families across the country.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic risks impact your family’s future. Our comprehensive GBA Gene Gaucher Disease Perinatal Lethal NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With advanced NGS technology and expert genetic interpretation, we deliver reliable results you can trust.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our compassionate team is ready to guide you through every step of the genetic testing process.
Take control of your genetic health and secure peace of mind for your family’s future. Book your test now and benefit from our special pricing of $500—a significant savings from the regular $700 fee.
