POLR1D Gene Treacher Collins Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Craniofacial Disorders
The POLR1D Gene Treacher Collins Syndrome Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic tool in the field of medical genetics. This specialized examination utilizes advanced Next-Generation Sequencing technology to identify mutations in the POLR1D gene, which plays a critical role in craniofacial development and is directly associated with Treacher Collins syndrome type 2.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the POLR1D gene, examining it for pathogenic variants that disrupt normal craniofacial development. The test detects:
- Point mutations and single nucleotide variants in the POLR1D gene
- Small insertions and deletions affecting gene function
- Pathogenic variants known to cause Treacher Collins syndrome type 2
- Novel mutations that may impact RNA polymerase I and III function
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Characteristic facial features including downward-slanting eyes, underdeveloped cheekbones, and small jaw
- Congenital hearing loss or ear abnormalities
- Cleft palate or other oral cavity malformations
- Family history of Treacher Collins syndrome or similar craniofacial conditions
- Unexplained developmental delays with facial dysmorphism
- Couples planning pregnancy with family history of craniofacial disorders
Significant Benefits of Genetic Testing
Undergoing the POLR1D genetic test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Treacher Collins syndrome type 2 with high precision
- Family Planning Guidance: Enables informed reproductive decisions and genetic counseling
- Personalized Treatment: Guides appropriate medical and surgical interventions
- Early Intervention: Facilitates timely management of associated complications
- Genetic Counseling: Provides comprehensive risk assessment for family members
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your results:
- Positive Result: Indicates the presence of a pathogenic POLR1D mutation, confirming Treacher Collins syndrome type 2 diagnosis
- Negative Result: Suggests absence of known POLR1D mutations, though other genetic causes may need consideration
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if you carry a single copy of the mutation without showing symptoms
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our comprehensive network ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions impact your health decisions. Our experienced genetic counselors and medical professionals are ready to guide you through the testing process and provide comprehensive support. Schedule your POLR1D genetic test today to gain valuable insights into your genetic health.
Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or request more information about this essential genetic analysis.
