POLR1C Gene Treacher Collins Syndrome Type 3 NGS Genetic DNA Test
Comprehensive Genetic Diagnosis for Craniofacial Abnormalities
The POLR1C Gene Treacher Collins Syndrome Type 3 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for individuals and families affected by craniofacial development disorders. This specialized genetic test utilizes cutting-edge next-generation sequencing technology to identify mutations in the POLR1C gene, which plays a crucial role in ribosome biogenesis and proper facial bone development during embryogenesis.
What Does This Test Detect?
Our advanced NGS genetic test specifically targets and analyzes the POLR1C gene for pathogenic variants that cause Treacher Collins syndrome type 3. The test examines:
- Complete coding regions of the POLR1C gene
- Exon-intron boundaries for splice site mutations
- Copy number variations and large deletions
- Point mutations and small insertions/deletions
- All known pathogenic variants associated with TCS3
Who Should Consider This Genetic Test?
This comprehensive genetic analysis is recommended for individuals presenting with symptoms suggestive of Treacher Collins syndrome, including:
- Newborns and children with characteristic facial features including downward-slanting eyes
- Individuals with underdeveloped cheekbones and jaw
- Patients with ear abnormalities or hearing loss
- Cleft palate or other oral cavity anomalies
- Family history of craniofacial syndromes
- Couples planning pregnancy with known family history of TCS
- Individuals with incomplete or atypical presentations requiring definitive diagnosis
Key Benefits of POLR1C Genetic Testing
Choosing our specialized genetic test provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive molecular confirmation of Treacher Collins syndrome type 3
- Family Planning: Enables informed reproductive decisions and prenatal testing options
- Personalized Care: Guides appropriate medical management and surgical interventions
- Genetic Counseling: Supports comprehensive family risk assessment and inheritance pattern understanding
- Early Intervention: Facilitates timely medical and developmental support
- Peace of Mind: Reduces diagnostic uncertainty and provides clear genetic information
Understanding Your Test Results
Our genetic specialists provide comprehensive result interpretation and counseling:
- Positive Result: Confirms POLR1C gene mutation and diagnosis of Treacher Collins syndrome type 3
- Negative Result: No pathogenic variants detected in POLR1C gene
- Variant of Uncertain Significance: Identified genetic change requires further clinical correlation
- Carrier Status: Important information for family members and future reproductive planning
All results include detailed explanations and recommendations for next steps, including referrals to appropriate specialists and support resources.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or FTA Card |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York City, 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 your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions impact your family’s future. Our POLR1C Gene Treacher Collins Syndrome Type 3 NGS Genetic DNA Test provides the definitive answers you need for informed medical decisions and family planning. Contact our genetic counseling team today to schedule your test and begin your journey toward genetic understanding.
Call or WhatsApp our genetic specialists at +1(267) 388-9828 to book your appointment or discuss testing options. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
