DHODH Gene Postaxial Acrofacial Dysostosis NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Congenital Disorders
The DHODH Gene Postaxial Acrofacial Dysostosis NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare congenital conditions. This advanced testing methodology provides crucial insights into the genetic basis of Postaxial Acrofacial Dysostosis, enabling accurate diagnosis and informed medical decision-making for affected individuals and their families.
What This Test Measures and Detects
This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the DHODH gene for mutations associated with Postaxial Acrofacial Dysostosis. The test specifically identifies:
- Pathogenic variants in the DHODH gene
- Single nucleotide polymorphisms (SNPs) affecting gene function
- Insertions, deletions, and other structural variations
- Copy number variations impacting gene expression
- Novel mutations not previously documented
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with specific clinical features or family history patterns:
Clinical Indications
- Newborns or children with characteristic facial abnormalities including micrognathia, cleft palate, or ear malformations
- Individuals with postaxial limb deficiencies affecting hands and feet
- Patients with growth retardation or developmental delays
- Those with family history of similar congenital anomalies
- Couples planning pregnancy with known family history of the condition
Symptoms and Clinical Presentation
- Facial dysmorphism including downward-slanting palpebral fissures
- Limb abnormalities such as missing fifth digits
- Craniofacial anomalies including microcephaly
- Hearing impairment or ear malformations
- Cardiac defects in some cases
Benefits of Genetic Testing
Undergoing the DHODH Gene Postaxial Acrofacial Dysostosis NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out genetic basis for clinical symptoms
- Family Planning: Enables informed reproductive decisions for at-risk families
- Personalized Care: Guides specialized medical management and interventions
- Early Intervention: Facilitates timely access to appropriate therapies
- Genetic Counseling: Provides basis for comprehensive family genetic counseling
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your genetic profile:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the DHODH gene. This confirmation enables:
- Definitive diagnosis of Postaxial Acrofacial Dysostosis
- Development of targeted treatment plans
- Family member screening recommendations
- Access to specialized medical resources
Negative Result Interpretation
A negative result suggests that no pathogenic DHODH mutations were detected. This information helps:
- Rule out this specific genetic condition
- Guide further diagnostic investigations
- Provide reassurance for family planning
- Focus medical evaluation on alternative causes
Variant of Uncertain Significance (VUS)
In some cases, genetic variants of uncertain clinical significance may be identified. Our genetic counseling team provides:
- Detailed explanation of variant implications
- Recommendations for additional testing if needed
- Ongoing monitoring as research evolves
- Family studies to clarify variant significance
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements
To ensure optimal testing outcomes, please provide:
- Complete clinical history of the patient
- Participation in genetic counseling session
- Detailed pedigree chart of affected family members
- Relevant medical records and previous test results
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and medical professionals ensures consistent, high-quality care regardless of location.
Take the Next Step in Genetic Health
Don’t let uncertainty about genetic conditions affect your family’s future. Our DHODH Gene Postaxial Acrofacial Dysostosis NGS Genetic DNA Test provides the clarity and confidence you need for informed healthcare decisions. With our limited-time discount pricing at $500 (regularly $700), now is the perfect opportunity to gain valuable genetic insights.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated team is ready to guide you through every step of the genetic testing process, from initial consultation to comprehensive result interpretation.
Take control of your genetic health journey with the precision and expertise of General Genetics Corporation. Your path to genetic clarity begins with a single phone call.
