CFC1 Gene Heterotaxy Visceral Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Organ Positioning Disorders
The CFC1 Gene Heterotaxy Visceral Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic tool in medical genetics, specifically designed to identify mutations in the CFC1 gene that cause heterotaxy syndrome. This rare congenital disorder affects the normal left-right asymmetry of internal organs, leading to complex medical conditions that require precise diagnosis and specialized management.
What is Heterotaxy Syndrome?
Heterotaxy syndrome is a rare genetic condition characterized by abnormal arrangement of internal organs across the left-right axis of the body. The CFC1 gene plays a critical role in embryonic development, particularly in establishing the proper left-right asymmetry during early fetal development. Mutations in this gene disrupt normal signaling pathways, resulting in visceral heterotaxy type 2, which can affect multiple organ systems including the heart, lungs, liver, and spleen.
What the Test Measures and Detects
Our advanced NGS (Next-Generation Sequencing) technology provides comprehensive analysis of the CFC1 gene to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Pathogenic variants associated with heterotaxy visceral type 2
- Novel mutations that may contribute to the disorder
The test utilizes state-of-the-art sequencing platforms to achieve >99% coverage of the CFC1 gene coding regions, ensuring high sensitivity and specificity in mutation detection.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Congenital heart defects with abnormal cardiac positioning
- Abnormal organ placement detected through imaging studies
- Family history of heterotaxy syndrome or related disorders
- Multiple congenital anomalies involving thoracic and abdominal organs
- Situs ambiguus or other abnormalities in organ positioning
- Recurrent respiratory or gastrointestinal issues related to organ malposition
- Unexplained developmental delays with structural abnormalities
Pediatric Considerations
Given that heterotaxy syndromes typically present in infancy or early childhood, this test is particularly valuable for pediatric patients showing:
- Complex congenital heart disease
- Abnormal spleen development or function
- Gastrointestinal malrotation
- Respiratory complications due to abnormal lung lobation
Benefits of Taking the CFC1 Genetic Test
Diagnostic Clarity and Precision
Obtaining a definitive genetic diagnosis through this test provides numerous advantages:
- Accurate Diagnosis: Confirms heterotaxy visceral type 2 with molecular precision
- Personalized Treatment: Enables targeted management strategies based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely medical and surgical interventions
- Reduced Diagnostic Odyssey: Minimizes unnecessary testing and medical procedures
Comprehensive Patient Care
The genetic information obtained from this test supports multidisciplinary care involving cardiologists, geneticists, surgeons, and other specialists, ensuring coordinated management of this complex condition.
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report includes detailed interpretation of findings:
- Positive Result: Identification of pathogenic or likely pathogenic variants in the CFC1 gene confirms the diagnosis of heterotaxy visceral type 2
- Negative Result: No mutations detected in the CFC1 gene, suggesting other genetic or non-genetic causes for the clinical presentation
- Variant of Uncertain Significance (VUS): Identification of genetic changes with unclear clinical impact, requiring further evaluation and family studies
- Carrier Status: Information about inheritance patterns and recurrence risks
Post-Test Genetic Counseling
All positive results include recommendations for genetic counseling to discuss:
- Implications for the patient’s medical management
- Family member testing options
- Reproductive risks and options
- Long-term monitoring recommendations
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | CFC1 Gene Heterotaxy Visceral Type 2 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Pediatrics, Genetics |
| Disease Category | Dysmorphology |
Pre-Test Requirements
To ensure optimal testing and accurate interpretation, we require:
- Complete clinical history of the patient
- Genetic counseling session prior to testing
- Detailed pedigree chart of family members affected by heterotaxy or related conditions
- Relevant medical imaging and diagnostic reports
Nationwide Testing Availability
We have branches across the United States, making this advanced genetic testing accessible to patients 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 Toward Genetic Clarity
Don’t let uncertainty about organ positioning disorders affect your or your family’s quality of life. Our CFC1 Gene Heterotaxy Visceral Type 2 NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand the implications of your results for comprehensive medical care.
Take control of your genetic health with the most advanced diagnostic technology available. Book your CFC1 genetic test now and move forward with confidence in your diagnosis and treatment plan.
