FKBP14 Gene Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis Myopathy and Hearing Loss NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Connective Tissue Disorder
The FKBP14 Gene Ehlers-Danlos Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying a specific subtype of Ehlers-Danlos syndrome characterized by progressive spinal curvature, muscle weakness, and auditory impairment. This sophisticated genetic analysis targets the FKBP14 gene, which encodes a crucial protein involved in collagen folding and connective tissue integrity. Through advanced Next-Generation Sequencing technology, our test provides unparalleled accuracy in detecting pathogenic variants that contribute to this complex multisystem disorder.
What This Test Measures and Detects
Our comprehensive NGS-based analysis specifically examines:
- Complete sequencing of the FKBP14 gene to identify point mutations, insertions, and deletions
- Detection of pathogenic variants associated with Ehlers-Danlos syndrome kyphoscoliotic type 2
- Assessment of genetic changes affecting collagen biosynthesis and connective tissue stability
- Identification of autosomal recessive inheritance patterns through family genetic analysis
- Evaluation of variant pathogenicity and clinical significance for accurate diagnosis
Who Should Consider This Genetic Test
This specialized genetic testing is particularly recommended for individuals presenting with:
- Progressive kyphoscoliosis (abnormal spinal curvature) developing in childhood or adolescence
- Generalized joint hypermobility and recurrent joint dislocations
- Muscle weakness (myopathy) affecting mobility and physical function
- Sensorineural hearing loss or progressive auditory impairment
- Fragile, hyperextensible skin with abnormal scarring and easy bruising
- Family history of connective tissue disorders or consanguineous parentage
- Unexplained developmental delays or musculoskeletal abnormalities
- Suspected Ehlers-Danlos syndrome with atypical features or diagnostic uncertainty
Clinical Benefits of Genetic Testing
Undergoing the FKBP14 genetic test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out FKBP14-related Ehlers-Danlos syndrome, eliminating diagnostic uncertainty
- Personalized Treatment Planning: Enables targeted interventions for spinal, muscular, and auditory complications
- Family Risk Assessment: Identifies inheritance patterns and provides recurrence risk information for family planning
- Early Intervention: Facilitates proactive management of progressive symptoms before significant disability develops
- Comprehensive Care Coordination: Guides referrals to appropriate specialists including orthopedic surgeons, audiologists, and physical therapists
- Psychological Relief: Provides answers and reduces the diagnostic odyssey for patients and families
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your results:
- Positive Result: Identification of pathogenic FKBP14 variants confirms diagnosis and enables targeted management strategies
- Negative Result: Absence of detectable FKBP14 mutations may suggest alternative diagnoses or different genetic causes
- Variant of Uncertain Significance: Some genetic changes require additional family studies or research correlation
- Carrier Status: Identification of individuals with single gene copies who may pass the condition to offspring
All results are accompanied by detailed genetic counseling to ensure complete understanding and appropriate next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | FKBP14 Gene Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis Myopathy and Hearing Loss NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 |
| Specialty | Dermatology, Genetics, Orthopedics, Audiology |
Nationwide Testing Availability
GGC DNA maintains comprehensive testing facilities across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many other cities. Our network ensures accessible genetic testing services for patients throughout the country.
Take the Next Step Toward Genetic Clarity
If you or a family member are experiencing symptoms suggestive of FKBP14-related Ehlers-Danlos syndrome, don’t delay in seeking genetic answers. Our specialized testing provides the clarity needed for effective management and informed healthcare decisions. Contact our genetic counseling team today to discuss testing options and begin your journey toward definitive diagnosis.
Call or WhatsApp our genetic specialists at +1(267) 388-9828 to schedule your consultation and genetic testing appointment. Our team is available to answer your questions, explain the testing process, and help you understand how genetic insights can transform your healthcare journey.
