GLE1 Gene Lethal Congenital Contracture Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Arthrogryposis and Congenital Contractures
The GLE1 Gene Lethal Congenital Contracture Syndrome Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the GLE1 gene, which are responsible for a severe form of arthrogryposis known as lethal congenital contracture syndrome type 1 (LCCS1). This condition falls under the broader category of dysmorphology and represents one of the most severe forms of multiple congenital contractures affecting fetal development.
What This Advanced Genetic Test Detects
Our NGS-based genetic test specifically targets and analyzes the GLE1 gene, which encodes a crucial protein involved in mRNA export from the nucleus to the cytoplasm. Mutations in this gene disrupt normal cellular function and lead to the characteristic features of LCCS1:
- Pathogenic variants in the GLE1 gene sequence
- Specific mutations associated with lethal congenital contracture syndrome
- Genetic alterations causing fetal akinesia deformation sequence
- Variants responsible for impaired neuromuscular development
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals and families experiencing specific clinical scenarios:
- Families with a history of unexplained fetal loss or stillbirth
- Infants presenting with multiple joint contractures at birth
- Cases of fetal akinesia or reduced fetal movements during pregnancy
- Families with previous children affected by arthrogryposis
- Couples planning pregnancy with family history of congenital contractures
- Cases where prenatal ultrasound reveals joint abnormalities
Clinical Benefits of GLE1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out LCCS1 with high accuracy
- Genetic Counseling: Enables informed family planning decisions
- Prenatal Guidance: Assists in managing subsequent pregnancies
- Clinical Management: Guides appropriate medical interventions
- Family Risk Assessment: Identifies carrier status in family members
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results:
- Positive Result: Indicates the presence of pathogenic GLE1 gene mutations associated with LCCS1
- Negative Result: Suggests absence of known disease-causing mutations in the GLE1 gene
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene
All results are accompanied by detailed interpretation from our board-certified genetic specialists, ensuring you receive comprehensive guidance and appropriate next steps.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Technology: Next-Generation Sequencing (NGS)
- Specialty: Pediatric Genetics
- Department: Genetics
- Method: NGS Technology
- Disease Type: Dysmorphology
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create a detailed pedigree chart of affected family members
- Documentation of previous genetic testing results if available
- Clinical notes describing presenting symptoms and physical findings
Nationwide Testing Availability
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 collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our GLE1 Gene Lethal Congenital Contracture Syndrome Type 1 NGS Genetic DNA Test provides the answers you need for informed medical decisions and family planning.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our compassionate genetic specialists are ready to guide you through the testing process and help you understand your results.
Take control of your genetic health with comprehensive, accurate testing from America’s leading genetics laboratory. Book your appointment now and receive the clarity you deserve.
