Understanding PLCB4 Gene Auriculocondylar Syndrome Type 2
When you’re concerned about genetic conditions affecting your family, especially those impacting facial development and hearing, finding clear answers becomes essential. Auriculocondylar syndrome type 2 is a rare genetic disorder that primarily affects the development of ears and jaw, and our advanced NGS genetic testing provides the definitive diagnosis you need for peace of mind.
What This Test Detects
Our PLCB4 Gene Auriculocondylar Syndrome Type 2 test specifically examines the PLCB4 gene using Next-Generation Sequencing technology. This advanced method identifies mutations that can cause abnormal development of the ears (often described as “question mark” shaped ears) and mandibular condyles, which are crucial for proper jaw function. The test provides comprehensive analysis of all coding regions and flanking intronic sequences of the PLCB4 gene.
Who Should Consider This Test?
This genetic test is particularly important if you or your family members experience:
- Unusual ear shape or positioning (often described as “question mark” ears)
- Jaw development concerns or mandibular abnormalities
- Family history of auriculocondylar syndrome
- Unexplained hearing difficulties in combination with facial abnormalities
- Planning for pregnancy with family history of genetic syndromes
- Children showing signs of abnormal ear or jaw development
Why Early Detection Matters for Your Family’s Health
Identifying PLCB4 gene mutations early can significantly impact treatment planning and management. Early diagnosis allows for:
- Appropriate medical interventions and surgical planning
- Better understanding of inheritance patterns for family planning
- Access to specialized care from ENT specialists and genetic counsellors
- Peace of mind through definitive answers about your genetic health
- Informed decisions about future pregnancies and family planning
Understanding Your Test Results
We understand that waiting for genetic test results can be anxiety-provoking. Our comprehensive reporting includes:
- Clear, easy-to-understand results with professional interpretation
- Genetic counselling session to explain findings and implications
- Detailed explanation of any identified mutations and their significance
- Guidance on next steps and specialist referrals if needed
- Family pedigree chart to understand inheritance patterns
Comprehensive Pricing & Value
| Service | Regular Price | Special Price |
|---|---|---|
| PLCB4 Gene Auriculocondylar Syndrome Type 2 NGS Test | ZAR 9,350 | ZAR 6,700 |
| Genetic Counselling Session | Included | |
| Family Pedigree Analysis | Included | |
| Professional Result Interpretation | Included | |
Considering the potential costs of undiagnosed genetic conditions and multiple specialist consultations, our comprehensive testing package represents exceptional value for South African families.
Nationwide Coverage & Professional Expertise
Oracle Genomics provides reliable genetic testing services across South Africa, with convenient sample collection available in Johannesburg, Cape Town, Durban, Pretoria, and nationwide. Our partnership with ENT specialists ensures you receive coordinated care and appropriate referrals when needed.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions create unnecessary anxiety for your family. Our PLCB4 Gene Auriculocondylar Syndrome Type 2 test provides the answers you need with:
- Advanced NGS Technology for maximum accuracy
- Quick 3-4 Week Turnaround for timely answers
- Professional Genetic Counselling included
- Nationwide Accessibility across South Africa
- Specialist ENT Coordination when required
Book your test today and take the first step toward genetic clarity and peace of mind for your family’s health future.
