PLOD1 Gene Ehlers-Danlos Syndrome Type 6 NGS Genetic DNA Test
Comprehensive Genetic Testing for Connective Tissue Disorders
The PLOD1 Gene Ehlers-Danlos Syndrome Type 6 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS). This sophisticated genetic analysis utilizes next-generation sequencing technology to provide definitive answers for patients and families affected by this complex connective tissue disorder.
What Does This Test Measure?
This specialized genetic test specifically targets the PLOD1 gene, which encodes the enzyme lysyl hydroxylase 1. This enzyme plays a critical role in collagen cross-linking, essential for maintaining the structural integrity of connective tissues throughout the body. The test identifies:
- Point mutations in the PLOD1 gene
- Deletions and insertions affecting gene function
- Splice site variations that disrupt normal protein production
- Compound heterozygous mutations
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Progressive scoliosis developing in childhood
- Generalized joint hypermobility and recurrent dislocations
- Skin hyperextensibility with abnormal scarring
- Ocular complications including corneal fragility and retinal detachment
- Muscular hypotonia (low muscle tone) in infancy
- Family history of connective tissue disorders
- Unexplained vascular fragility or bruising
Clinical Benefits of PLOD1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Ehlers-Danlos syndrome type 6
- Personalized Treatment: Enables targeted management strategies
- Family Planning: Provides crucial information for genetic counseling
- Early Intervention: Facilitates proactive monitoring for complications
- Differential Diagnosis: Helps distinguish from other connective tissue disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists:
- Positive Result: Indicates the presence of pathogenic mutations in the PLOD1 gene, confirming Ehlers-Danlos syndrome type 6 diagnosis
- Negative Result: Suggests absence of known PLOD1 mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Dermatology, Genetics
- Department: Genetics
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of potential implications with healthcare provider
- Informed consent for genetic testing
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and healthcare professionals ensures you receive comprehensive support throughout the testing process.
Take the Next Step Toward Answers
If you or a family member are experiencing symptoms suggestive of Ehlers-Danlos syndrome type 6, don’t wait to get the answers you need. Our advanced PLOD1 genetic testing provides the clarity required for proper diagnosis and management. Contact us today to schedule your genetic counseling session and testing appointment.
Call or WhatsApp: +1(267) 388-9828 to book your PLOD1 Gene Ehlers-Danlos Syndrome Type 6 NGS Genetic DNA Test today and take control of your genetic health journey.
