IFT172 Gene Short-Rib Thoracic Dysplasia Type 10 with or without Polydactyly NGS Genetic DNA Test
Comprehensive Genetic Testing for Skeletal Dysplasia Conditions
The IFT172 Gene Short-Rib Thoracic Dysplasia Type 10 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying rare skeletal disorders. This specialized genetic test utilizes Next Generation Sequencing technology to analyze the IFT172 gene, which plays a critical role in intraflagellar transport and ciliary function. Mutations in this gene are directly associated with Short-Rib Thoracic Dysplasia Type 10, a severe skeletal condition affecting bone development and respiratory function.
What This Test Measures and Detects
Our advanced NGS genetic testing specifically targets:
- Complete sequencing of the IFT172 gene for comprehensive mutation analysis
- Detection of pathogenic variants associated with Short-Rib Thoracic Dysplasia Type 10
- Identification of both inherited and de novo genetic mutations
- Analysis of gene regions responsible for ciliary function and skeletal development
- Assessment of mutation types including missense, nonsense, frameshift, and splice-site variants
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with:
- Newborns or children with narrow chest and respiratory difficulties
- Individuals with shortened ribs and limbs detected during prenatal ultrasound
- Patients with polydactyly (extra fingers or toes) along with skeletal abnormalities
- Families with history of skeletal dysplasia or related genetic conditions
- Couples with previous affected pregnancies seeking genetic counseling
- Individuals with suspected ciliopathy disorders affecting multiple organ systems
Key Clinical Symptoms and Indications
Clinical features that warrant IFT172 gene testing include:
- Severely constricted thoracic cage limiting lung development
- Shortened long bones in arms and legs
- Postaxial polydactyly in hands and/or feet
- Respiratory distress in neonatal period
- Abnormal facial features including cleft palate
- Cardiac and renal abnormalities
Benefits of IFT172 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
Medical Management Benefits
- Definitive diagnosis enabling targeted treatment approaches
- Early intervention for respiratory complications
- Personalized care planning based on specific genetic findings
- Improved monitoring for associated health complications
- Better understanding of disease progression and prognosis
Family Planning Advantages
- Accurate genetic counseling for family members
- Prenatal testing options for future pregnancies
- Carrier testing for at-risk relatives
- Reproductive decision-making support
- Family pedigree analysis and risk assessment
Understanding Your Test Results
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the IFT172 gene, confirming the diagnosis of Short-Rib Thoracic Dysplasia Type 10. Our genetic counselors will provide comprehensive guidance on:
- Medical management strategies for skeletal and respiratory issues
- Multidisciplinary care coordination with specialists
- Family testing recommendations
- Long-term monitoring and support resources
Negative Result Interpretation
A negative result suggests that no disease-causing mutations were detected in the IFT172 gene. However, this doesn’t completely rule out skeletal dysplasia, as other genetic causes may be involved. Further testing or clinical evaluation may be recommended.
Variant of Uncertain Significance
If a genetic variant of uncertain significance is identified, our team will provide detailed interpretation and may recommend additional family studies to clarify the variant’s clinical relevance.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | IFT172 Gene Short-Rib Thoracic Dysplasia Type 10 with or without Polydactyly 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 |
Pre-Test Requirements
Before scheduling your IFT172 genetic test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process completion
- Insurance pre-authorization if applicable
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and medical professionals ensures consistent, high-quality care regardless of location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about skeletal dysplasia conditions affect your family’s future. Our expert team is ready to provide the comprehensive genetic testing and counseling you need. With rapid 3-4 week turnaround times and accessible pricing at $500 USD, obtaining definitive answers has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your IFT172 gene test. Our compassionate team is available to answer your questions and guide you through every step of the testing process.
Early genetic diagnosis can make a significant difference in managing skeletal dysplasia conditions and planning appropriate medical interventions. Trust General Genetics Corporation for accurate, reliable genetic testing backed by decades of expertise in genetic diagnostics.
