B4GALT7 Gene Ehlers-Danlos Syndrome Progeroid Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Connective Tissue Disorders
The B4GALT7 Gene Ehlers-Danlos Syndrome Progeroid Type 1 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic conditions affecting connective tissues. This specialized test utilizes advanced Next-Generation Sequencing (NGS) technology to detect mutations in the B4GALT7 gene, which plays a critical role in glycosaminoglycan biosynthesis and extracellular matrix formation.
What This Test Measures and Detects
Our comprehensive genetic analysis specifically targets:
- Pathogenic variants in the B4GALT7 gene located on chromosome 5q35.2
- Mutations affecting beta-1,4-galactosyltransferase 7 enzyme function
- Genetic alterations responsible for impaired proteoglycan synthesis
- Variants associated with connective tissue abnormalities and premature aging features
Clinical Indications: Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Premature aging characteristics (progeroid features)
- Joint hypermobility and recurrent dislocations
- Characteristic facial features including prominent eyes and thin nose
- Developmental delays and intellectual disability
- Skin hyperextensibility with abnormal scarring
- Short stature and skeletal abnormalities
- Family history of Ehlers-Danlos syndrome or similar connective tissue disorders
Key Benefits of Genetic Testing
Undergoing the B4GALT7 genetic test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Ehlers-Danlos syndrome progeroid type 1
- Personalized Treatment: Enables targeted management strategies based on genetic findings
- Family Planning: Provides crucial information for reproductive decisions
- Early Intervention: Facilitates proactive management of potential complications
- Comprehensive Analysis: NGS technology ensures high detection rate for various mutation types
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your results:
- Positive Result: Indicates presence of pathogenic B4GALT7 mutation, confirming diagnosis
- Negative Result: Suggests absence of detectable mutations in the analyzed gene regions
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for family members and future generations
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | B4GALT7 Gene Ehlers-Danlos Syndrome Progeroid Type 1 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 scheduling your test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Review of insurance coverage and payment options
Nationwide Accessibility
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 cities. Our network of certified genetic counselors and healthcare professionals ensures consistent, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your genetic health prevent you from getting the answers you need. Our specialized B4GALT7 genetic testing provides the clarity required for informed medical decisions and personalized care planning. With our discounted price of $500 USD, advanced genetic testing is more accessible than ever.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your B4GALT7 Gene Ehlers-Danlos Syndrome Progeroid Type 1 NGS Genetic DNA Test. Our compassionate team is ready to guide you through every step of the testing process and help you understand your genetic health.
