IFT80 Gene Short-Rib Thoracic Dysplasia Type 2 with or without Polydactyly NGS Genetic DNA Test
Comprehensive Genetic Testing for Skeletal Disorders
The IFT80 Gene Short-Rib Thoracic Dysplasia Type 2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare skeletal conditions. This advanced test utilizes cutting-edge Next-Generation Sequencing technology to analyze the IFT80 gene, which plays a critical role in intraflagellar transport and ciliary function. Mutations in this gene disrupt normal skeletal development, leading to the characteristic features of short-rib thoracic dysplasia.
What This Test Measures and Detects
Our comprehensive NGS analysis specifically targets the IFT80 gene to identify pathogenic variants including:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting gene function
- Compound heterozygous mutations
- Novel variants with potential clinical significance
The test provides complete coverage of all coding regions and critical regulatory elements of the IFT80 gene, ensuring maximum detection sensitivity for this autosomal recessive condition.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Prenatal ultrasound findings of narrow chest or short ribs
- Clinical features of skeletal dysplasia in infancy or childhood
- Family history of short-rib thoracic dysplasia or related conditions
- Polydactyly (extra fingers or toes) with skeletal abnormalities
- Respiratory distress due to thoracic constriction
- Shortened limbs disproportionate to body size
- Previous affected pregnancies with skeletal abnormalities
Benefits of IFT80 Genetic Testing
Comprehensive Diagnostic Advantages
Undergoing IFT80 genetic testing provides numerous clinical benefits:
- Accurate Diagnosis: Confirms or rules out Short-Rib Thoracic Dysplasia Type 2 with high precision
- Family Planning Guidance: Enables informed reproductive decisions for at-risk couples
- Personalized Management: Guides appropriate medical interventions and monitoring
- Genetic Counseling: Provides recurrence risk assessment for future pregnancies
- Differential Diagnosis: Helps distinguish from other skeletal dysplasias with similar presentations
- Research Contribution: Advances understanding of ciliopathies and skeletal development
Understanding Your Test Results
Interpretation and Clinical Implications
Your genetic test results will fall into one of several categories:
- Positive Result: Identification of two pathogenic mutations confirms diagnosis of Short-Rib Thoracic Dysplasia Type 2. This information enables comprehensive medical management and family counseling.
- Negative Result: No pathogenic variants detected significantly reduces the likelihood of IFT80-related disorder, though other genetic causes should be considered.
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or research to determine clinical significance.
- Carrier Status: Identification of a single mutation indicates carrier status with 25% risk of affected offspring when both parents are carriers.
All results include detailed interpretation by our board-certified genetic counselors and clinical geneticists.
Test Pricing and Availability
| Test Option | Price (USD) | Features |
|---|---|---|
| Discount Price | $500 | Includes genetic counseling session and comprehensive report |
| Regular Price | $700 | Standard pricing for direct payment |
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: Pediatric Genetics
- Department: Genetics
- Disease Category: Dysmorphology
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network ensures accessible genetic testing services regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about skeletal abnormalities affect your family’s future. Our IFT80 genetic test provides the answers you need for informed medical decisions and family planning. With our discounted price of $500 USD and comprehensive genetic counseling included, you receive exceptional value and peace of mind.
Ready to schedule your test? Contact our genetic specialists today:
Call or WhatsApp: +1(267) 388-9828
Our compassionate team is available to discuss your concerns, answer questions about the testing process, and help you understand how genetic testing can benefit your family. Take control of your genetic health with the premier genetic testing provider in the United States.
