PLCB4 Gene Auriculocondylar Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Craniofacial Development Disorders
The PLCB4 Gene Auriculocondylar Syndrome Type 2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare craniofacial disorders. This specialized test utilizes cutting-edge Next-Generation Sequencing technology to identify mutations in the PLCB4 gene, which plays a crucial role in embryonic development and facial formation. Auriculocondylar Syndrome Type 2 is a rare autosomal dominant condition characterized by distinctive facial features, particularly affecting the ears and mandible.
What Does This Test Measure and Detect?
Our advanced NGS-based test specifically targets and analyzes the PLCB4 gene for pathogenic variants associated with Auriculocondylar Syndrome Type 2. The test detects:
- Point mutations and single nucleotide variants in the PLCB4 gene
- Small insertions and deletions affecting gene function
- Missense mutations that alter protein structure
- Frameshift mutations leading to premature stop codons
- Regulatory region variants affecting gene expression
The PLCB4 gene encodes phospholipase C beta 4, an enzyme essential for intracellular signaling pathways during embryonic development. Mutations in this gene disrupt normal craniofacial morphogenesis, leading to the characteristic features of Auriculocondylar Syndrome.
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with the following clinical features:
- Newborns or children with distinctive “question mark” shaped ears
- Individuals with mandibular hypoplasia or micrognathia
- Patients with temporomandibular joint abnormalities
- Those experiencing conductive hearing loss
- Individuals with facial asymmetry or craniofacial dysmorphism
- Patients with family history of Auriculocondylar Syndrome
- Children with feeding difficulties due to jaw abnormalities
- Individuals with abnormal ear positioning or morphology
Clinical Benefits of PLCB4 Genetic Testing
Undergoing PLCB4 genetic testing provides numerous clinical advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out Auriculocondylar Syndrome Type 2 with high precision
- Personalized Treatment Planning: Enables targeted interventions for craniofacial abnormalities
- Genetic Counseling: Provides families with comprehensive risk assessment and inheritance patterns
- Early Intervention: Facilitates timely management of hearing loss and feeding difficulties
- Family Planning: Offers reproductive options and prenatal testing for at-risk families
- Multidisciplinary Care Coordination: Connects patients with appropriate specialists including craniofacial surgeons, audiologists, and speech therapists
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your PLCB4 gene analysis:
- Positive Result: Indicates the presence of a pathogenic PLCB4 mutation confirming Auriculocondylar Syndrome Type 2 diagnosis
- Negative Result: Suggests absence of detectable PLCB4 mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Determines inheritance patterns for family members
All results include detailed genetic counseling sessions to ensure complete understanding and appropriate next steps. Our genetic specialists provide personalized recommendations based on your specific genetic findings and clinical presentation.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | PLCB4 Gene Auriculocondylar Syndrome Type 2 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) |
| Specialty | Pediatrics, Genetics |
| Disease Category | Dysmorphology |
Pre-Test Requirements and Preparation
Before undergoing PLCB4 genetic testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process explaining benefits and limitations
- Coordination with referring physicians for complete clinical evaluation
Nationwide Accessibility and Support
We have diagnostic centers conveniently located throughout 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 facilities are equipped with state-of-the-art genetic testing laboratories and staffed by experienced genetic counselors and molecular geneticists.
Take the Next Step Toward Genetic Clarity
If you or your child are experiencing symptoms suggestive of Auriculocondylar Syndrome Type 2, don’t delay in seeking genetic answers. Our PLCB4 genetic test provides the definitive information needed for accurate diagnosis and comprehensive care planning. Contact our genetic specialists today to schedule your test and begin your journey toward genetic understanding.
Call or WhatsApp our genetic counseling team at +1(267) 388-9828 to book your PLCB4 Gene Auriculocondylar Syndrome Type 2 NGS Genetic DNA Test today. Our compassionate professionals are ready to guide you through the testing process and provide the answers your family deserves.
