TTC21B Gene Short-Rib Thoracic Dysplasia Type 4 with or without Polydactyly NGS Genetic DNA Test
Comprehensive Genetic Analysis for Skeletal Dysplasia Conditions
The TTC21B Gene Short-Rib Thoracic Dysplasia Type 4 NGS Genetic DNA Test represents a cutting-edge diagnostic tool in pediatric genetics, specifically designed to identify mutations in the TTC21B gene that cause severe skeletal abnormalities. This comprehensive genetic analysis utilizes next-generation sequencing technology to provide accurate, reliable results for families seeking answers about complex skeletal conditions.
What Does This Test Measure?
This advanced genetic test specifically targets the TTC21B gene, which plays a critical role in ciliary function and skeletal development. The test detects:
- Pathogenic mutations in the TTC21B gene associated with short-rib thoracic dysplasia
- Genetic variations responsible for skeletal malformations including narrow chest and short ribs
- Mutations linked to polydactyly (extra fingers or toes)
- Inheritance patterns that help determine recurrence risks in families
Who Should Consider This Test?
This genetic test is particularly important for individuals presenting with specific clinical features:
- Newborns or infants with narrow thoracic cage and respiratory difficulties
- Children exhibiting short ribs and skeletal abnormalities on radiographic imaging
- Patients with polydactyly (extra digits) alongside skeletal issues
- Families with history of skeletal dysplasia or consanguineous relationships
- Prenatal cases showing skeletal abnormalities on ultrasound
- Individuals requiring differential diagnosis between various skeletal dysplasia types
Clinical Benefits of Genetic Testing
Undergoing the TTC21B genetic test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out TTC21B-related skeletal dysplasia
- Family Planning: Enables informed reproductive decisions for at-risk couples
- Medical Management: Guides appropriate treatment and monitoring strategies
- Prognostic Information: Helps predict disease progression and potential complications
- Genetic Counseling: Provides basis for comprehensive family genetic counseling
- Research Contribution: Contributes to understanding of rare genetic disorders
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Indicates presence of pathogenic TTC21B mutation, confirming diagnosis
- Negative Result: Suggests absence of detectable TTC21B mutations, though other genetic causes may exist
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who carry one copy of mutated gene without symptoms
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| TTC21B Gene Short-Rib Thoracic Dysplasia Type 4 with or without Polydactyly NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York City, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, Milwaukee, Albuquerque, Tucson, Fresno, Sacramento, Kansas City, Long Beach, Mesa, Atlanta, Colorado Springs, Omaha, Raleigh, Miami, Virginia Beach, Oakland, Minneapolis, Tulsa, Arlington, and Tampa.
Take the Next Step Toward Genetic Clarity
If you or your child are experiencing symptoms suggestive of skeletal dysplasia or have a family history of TTC21B-related conditions, don’t wait to get answers. Our experienced genetic counselors are available to discuss your concerns and guide you through the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your TTC21B genetic test. Our team is ready to provide the expert care and comprehensive testing you deserve.
Remember: Early genetic diagnosis can significantly impact treatment outcomes and family planning decisions. Take control of your genetic health with our state-of-the-art NGS testing technology.
