ZSWIM6 Gene Acromelic Frontonasal Dysostosis NGS Genetic DNA Test
Comprehensive Genetic Analysis for Craniofacial Abnormalities
The ZSWIM6 Gene Acromelic Frontonasal Dysostosis NGS Genetic DNA Test represents a cutting-edge diagnostic tool in pediatric genetics and dysmorphology. This specialized genetic test utilizes next-generation sequencing technology to identify mutations in the ZSWIM6 gene, which plays a critical role in embryonic development and is associated with acromelic frontonasal dysostosis—a rare congenital disorder characterized by distinctive facial features and limb abnormalities.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets and analyzes the ZSWIM6 gene using sophisticated NGS methodology to detect:
- Pathogenic variants and mutations in the ZSWIM6 gene
- Single nucleotide polymorphisms (SNPs) associated with acromelic frontonasal dysostosis
- Insertions, deletions, and copy number variations affecting gene function
- Autosomal dominant inheritance patterns characteristic of this condition
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with the following symptoms or clinical indications:
- Newborns or children with distinctive craniofacial features including hypertelorism, broad nasal bridge, or cleft lip/palate
- Individuals with limb abnormalities such as shortened limbs, polydactyly, or skeletal malformations
- Patients with developmental delays or intellectual disabilities of unknown etiology
- Families with a history of craniofacial syndromes or genetic disorders
- Couples planning pregnancy with family history of congenital abnormalities
- Individuals undergoing genetic counseling for inherited conditions
Key Benefits of ZSWIM6 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of acromelic frontonasal dysostosis
- Personalized Treatment Planning: Enables targeted interventions and management strategies
- Family Planning Guidance: Offers crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely medical and surgical interventions for better outcomes
- Genetic Risk Assessment: Helps determine recurrence risks for family members
- Comprehensive Care Coordination: Supports multidisciplinary approach involving genetics, pediatrics, and surgical specialties
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our certified genetic counselors:
- Positive Result: Indicates the presence of a pathogenic ZSWIM6 gene mutation, confirming the diagnosis of acromelic frontonasal dysostosis
- Negative Result: Suggests no detectable mutation in the ZSWIM6 gene, though other genetic causes may need consideration
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if individuals carry the mutation without showing symptoms
Our genetic counseling team provides comprehensive interpretation and guidance based on your specific results, ensuring you understand the implications for your health and family planning.
Test Pricing and Sample Requirements
| Test Feature | Details |
|---|---|
| Test Name | ZSWIM6 Gene Acromelic Frontonasal Dysostosis 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 |
Pre-Test Requirements and Preparation
Before undergoing testing, patients should provide:
- Complete clinical history including developmental milestones and physical examination findings
- Participation in genetic counseling session to create detailed family pedigree chart
- Documentation of affected family members with similar symptoms or diagnoses
- Recent clinical photographs if available for phenotypic correlation
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient 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 collection centers ensures accessible testing for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our specialized ZSWIM6 genetic testing provides the answers you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can gain valuable insights into your genetic health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test appointment or speak with our genetic counseling team. Take control of your genetic health and secure peace of mind for your family’s future.
