NECTIN1 Gene Orofacial Cleft Type 7 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Cleft Lip and Palate Conditions
The NECTIN1 Gene Orofacial Cleft Type 7 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for craniofacial abnormalities. This advanced testing methodology provides crucial insights into the genetic basis of orofacial clefts, enabling better understanding, management, and prevention of these conditions.
What Does This Test Measure?
This sophisticated genetic test specifically targets the NECTIN1 gene, which plays a critical role in cell adhesion and tissue development during embryonic formation. The test utilizes next-generation sequencing (NGS) technology to comprehensively analyze:
- Point mutations and single nucleotide variants in the NECTIN1 gene
- Small insertions and deletions that may disrupt gene function
- Regulatory region variations affecting gene expression
- Copy number variations and structural rearrangements
Who Should Consider This Test?
This genetic test is particularly recommended for:
- Individuals with personal or family history of orofacial clefts
- Couples planning pregnancy with known genetic risk factors
- Patients presenting with isolated cleft lip, cleft palate, or both
- Individuals with syndromic features alongside craniofacial abnormalities
- Those with unexplained developmental delays and facial dysmorphisms
- Families seeking genetic counseling for inheritance pattern clarification
Clinical Symptoms and Indications
Patients may present with various manifestations including:
- Unilateral or bilateral cleft lip
- Cleft palate affecting speech and feeding
- Dental abnormalities and malocclusion
- Nasal deformities and breathing difficulties
- Associated syndromic features in some cases
- Recurrent ear infections and hearing issues
Benefits of NECTIN1 Genetic Testing
Comprehensive Diagnostic Clarity
This test provides definitive genetic diagnosis, eliminating diagnostic uncertainty and enabling targeted management strategies. Understanding the specific genetic mutation allows for personalized treatment planning and better prognostic assessment.
Family Planning Guidance
Genetic testing results empower families with accurate recurrence risk information, facilitating informed reproductive decisions and prenatal planning options.
Early Intervention Opportunities
Early genetic diagnosis enables timely multidisciplinary care coordination involving plastic surgeons, orthodontists, speech therapists, and genetic counselors.
Research Contribution
Participation in genetic testing contributes to ongoing research efforts, helping advance scientific understanding of craniofacial development and genetic disorders.
Understanding Your Test Results
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the NECTIN1 gene. This confirms the genetic basis for orofacial cleft type 7 and provides valuable information for:
- Confirming clinical diagnosis
- Understanding inheritance patterns (autosomal recessive)
- Assessing recurrence risks for future pregnancies
- Guiding appropriate medical surveillance and interventions
Negative Result Implications
A negative result suggests that NECTIN1 gene mutations are not the cause of the orofacial cleft in the tested individual. However, this doesn’t exclude other genetic or environmental factors and may warrant additional genetic testing.
Variant of Uncertain Significance
Some results may identify genetic variations with unknown clinical significance. In such cases, ongoing research and family studies may help clarify the variant’s impact over time.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | NECTIN1 Gene Orofacial Cleft Type 7 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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) Technology |
| Specialty | Pediatrics and Genetics |
| Disease Category | Dysmorphology |
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history documentation
- Genetic counseling session scheduled
- Family pedigree chart prepared
- Informed consent for genetic testing
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 cities. Our network of certified genetic counselors and medical professionals ensures consistent, high-quality care regardless of location.
Take the Next Step Toward Genetic Clarity
Understanding your genetic profile is the first step toward comprehensive care and informed decision-making. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results within the context of your personal and family medical history.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your NECTIN1 Gene Orofacial Cleft Type 7 NGS Genetic DNA Test and take control of your genetic health journey.
