CPLANE1 Gene Orofaciodigital Syndrome Type 6 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Craniofacial Disorders
The CPLANE1 Gene Orofaciodigital Syndrome Type 6 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic conditions affecting craniofacial development. This sophisticated genetic analysis utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the CPLANE1 gene, which plays a critical role in ciliary function and embryonic development. Early and accurate diagnosis through this test enables healthcare providers to implement targeted interventions and comprehensive management strategies for affected individuals.
What Does This Test Measure?
This advanced genetic test specifically targets and analyzes the CPLANE1 gene (Ciliogenesis And Planar Polarity Effector 1), which is associated with Orofaciodigital Syndrome Type 6. The test detects:
- Pathogenic variants and mutations in the CPLANE1 gene
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations affecting gene function
- Specific genetic markers linked to OFD6 syndrome
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of Orofaciodigital Syndrome Type 6, including:
- Newborns and children with craniofacial abnormalities
- Individuals with oral clefts, tongue abnormalities, or dental anomalies
- Patients with digital malformations such as polydactyly or syndactyly
- Those with neurological symptoms including developmental delay
- Individuals with family history of OFD6 syndrome
- Patients with unexplained dysmorphic features
Clinical Benefits of Genetic Testing
Undergoing the CPLANE1 Gene Orofaciodigital Syndrome Type 6 NGS Genetic DNA Test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out OFD6 syndrome with high accuracy
- Personalized Treatment: Enables targeted medical interventions and management
- Genetic Counseling: Provides essential information for family planning decisions
- Early Intervention: Facilitates timely medical and developmental support
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your test results effectively:
- Positive Result: Indicates the presence of pathogenic CPLANE1 gene mutations, confirming OFD6 syndrome diagnosis
- Negative Result: Suggests absence of known disease-causing mutations in the CPLANE1 gene
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CPLANE1 Gene Orofaciodigital Syndrome Type 6 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 |
| Methodology | Next-Generation Sequencing (NGS) Technology |
| Specialty | Pediatrics, Genetics |
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history and symptom documentation
- Genetic counseling session to create detailed family pedigree
- Information about affected family members with similar symptoms
- Current medical records and previous diagnostic test results
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, San Jose, and many more. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our expert genetic counselors and medical professionals are ready to guide you through the testing process and provide comprehensive support. Early diagnosis through genetic testing can make a significant difference in treatment outcomes and quality of life.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your CPLANE1 Gene Orofaciodigital Syndrome Type 6 NGS Genetic DNA Test. Our dedicated team is available to answer your questions and help you take control of your genetic health journey.
