GDF6 Gene Klippel-Feil Syndrome Type 1 Autosomal Dominant NGS Genetic DNA Test
Understanding Klippel-Feil Syndrome Type 1
Klippel-Feil Syndrome Type 1 represents a rare congenital disorder characterized by the abnormal fusion of two or more cervical vertebrae in the neck. This condition, caused by mutations in the GDF6 gene, affects spinal development during embryonic growth and can lead to significant physical limitations and potential neurological complications. The GDF6 gene plays a crucial role in bone and joint formation, particularly in the cervical spine region.
What This Advanced Genetic Test Detects
Our comprehensive NGS (Next-Generation Sequencing) genetic DNA test specifically targets mutations in the GDF6 gene that are responsible for Klippel-Feil Syndrome Type 1. The test examines:
- Point mutations and single nucleotide variants in the GDF6 gene
- Small insertions and deletions affecting gene function
- Regulatory region abnormalities impacting gene expression
- Autosomal dominant inheritance pattern confirmation
- Complete coding sequence analysis of the GDF6 gene
Who Should Consider This Genetic Test
This specialized genetic analysis is recommended for individuals presenting with:
- Congenital fusion of cervical vertebrae visible on imaging studies
- Classic triad of short neck, low hairline, and limited neck mobility
- Family history of spinal abnormalities or congenital neck deformities
- Unexplained neurological symptoms including numbness, weakness, or pain
- Associated conditions such as scoliosis, hearing impairment, or renal abnormalities
- Planning for pregnancy with family history of skeletal dysplasias
Clinical Benefits of Genetic Testing
Undergoing the GDF6 genetic test provides numerous advantages for patients and healthcare providers:
- Definitive Diagnosis: Confirms or rules out genetic cause of spinal abnormalities
- Treatment Planning: Guides surgical interventions and physical therapy approaches
- Prognostic Information: Helps predict potential complications and disease progression
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Enables proactive management of associated conditions
- Comprehensive Care: Facilitates multidisciplinary approach involving orthopedics, neurology, and genetics
Understanding Your Test Results
Our comprehensive genetic counseling service helps you interpret your results:
- Positive Result: Indicates presence of GDF6 gene mutation confirming diagnosis
- Negative Result: Suggests absence of tested mutations but doesn’t rule out other genetic causes
- Variant of Uncertain Significance: Requires additional family studies for interpretation
- Carrier Status: Important information for family members and future generations
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | GDF6 Gene Klippel-Feil Syndrome Type 1 Autosomal Dominant 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 undergoing testing, we recommend:
- Complete clinical history documentation of patient symptoms
- Genetic counseling session to create detailed family pedigree chart
- Review of previous imaging studies and medical records
- Discussion of potential implications for family members
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services with consistent quality standards nationwide.
Take the Next Step Toward Diagnosis
If you or a family member are experiencing symptoms suggestive of Klippel-Feil Syndrome or have concerns about genetic spinal conditions, our specialized genetic testing can provide the answers you need. Our team of genetic counselors and medical professionals are ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic consultation and testing appointment. Take control of your genetic health with our advanced NGS technology and comprehensive diagnostic services.
