CHST14 Gene Ehlers-Danlos Syndrome Musculocontractural Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Musculocontractural Ehlers-Danlos Syndrome
The CHST14 Gene Ehlers-Danlos Syndrome Musculocontractural Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare connective tissue disorders. This advanced next-generation sequencing test specifically targets the CHST14 gene, which plays a critical role in dermatan sulfate biosynthesis—an essential component of connective tissues throughout the body.
What This Test Measures and Detects
Our sophisticated NGS technology provides comprehensive analysis of the CHST14 gene to identify pathogenic variants associated with musculocontractural Ehlers-Danlos syndrome type 1. The test specifically detects:
- Point mutations and small insertions/deletions in the CHST14 gene
- Missense, nonsense, and frameshift mutations affecting dermatan sulfate synthesis
- Autosomal recessive inheritance patterns characteristic of this condition
- Genetic variants that disrupt normal connective tissue development
Who Should Consider This Test
This genetic test is recommended for individuals presenting with the following clinical features:
- Congenital multiple contractures affecting joints and muscles
- Characteristic facial features including downslanting palpebral fissures and prominent eyes
- Progressive joint hypermobility with recurrent dislocations
- Skin hyperextensibility and fragility with abnormal scarring
- Developmental delays or intellectual disability in some cases
- Family history of similar connective tissue abnormalities
- Unexplained musculoskeletal abnormalities from birth
Clinical Benefits of Genetic Testing
Undergoing CHST14 genetic testing provides numerous advantages for patients and families:
- Definitive Diagnosis: Eliminates diagnostic uncertainty and provides clear answers
- Personalized Management: Enables targeted treatment strategies based on genetic findings
- Family Planning: Provides crucial information for reproductive decision-making
- Early Intervention: Facilitates proactive management of potential complications
- Genetic Counseling: Offers comprehensive support for understanding inheritance patterns
- Research Contribution: Helps advance medical knowledge about rare genetic disorders
Understanding Your Test Results
Our genetic counseling team provides detailed interpretation of your CHST14 test results:
- Positive Result: Indicates pathogenic mutations in both CHST14 gene copies, confirming musculocontractural Ehlers-Danlos syndrome diagnosis
- Negative Result: No disease-causing mutations detected, though clinical evaluation remains important
- Variant of Uncertain Significance: Genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Identification of individuals with one mutated gene copy who may pass the condition to offspring
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | CHST14 Gene Ehlers-Danlos Syndrome Musculocontractural 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 testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of symptoms and physical findings
- Informed consent for genetic testing
Nationwide Testing Availability
We have diagnostic centers conveniently located across 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 patients throughout the country.
Take the Next Step Toward Diagnosis
If you or a family member experience symptoms suggestive of musculocontractural Ehlers-Danlos syndrome, don’t wait to get answers. Our comprehensive CHST14 genetic testing provides the clarity needed for proper diagnosis and management. Contact our genetic specialists today to schedule your test and begin your journey toward understanding.
Call or WhatsApp our genetic counseling team at +1(267) 388-9828 to book your CHST14 Gene Ehlers-Danlos Syndrome test today.
