CFAP53 Gene Heterotaxy Visceral Type 6 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Organ Positioning Disorders
The CFAP53 Gene Heterotaxy Visceral Type 6 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for congenital organ positioning disorders. This advanced test utilizes next-generation sequencing technology to identify mutations in the CFAP53 gene, which plays a critical role in establishing proper left-right asymmetry during embryonic development. Heterotaxy visceral type 6 is a rare genetic condition characterized by abnormal arrangement of internal organs across the body’s left-right axis.
What Does This Test Measure and Detect?
This comprehensive genetic test specifically targets the CFAP53 gene to identify pathogenic variants responsible for heterotaxy visceral type 6. The test detects:
- Point mutations, insertions, and deletions in the CFAP53 gene
- Missense, nonsense, and frameshift mutations affecting protein function
- Copy number variations and structural rearrangements
- Both inherited and de novo genetic alterations
The CFAP53 gene encodes a crucial protein involved in ciliary function and left-right patterning during embryonic development. Mutations in this gene disrupt normal organ positioning, leading to complex congenital abnormalities.
Who Should Consider This Genetic Test?
This test is particularly important for individuals presenting with:
- Congenital heart defects with abnormal chamber positioning
- Abnormal organ arrangement (situs inversus or situs ambiguous)
- Family history of heterotaxy or congenital heart disease
- Multiple congenital anomalies involving organ positioning
- Unexplained developmental delays with structural abnormalities
- Recurrent respiratory infections suggesting ciliary dysfunction
Clinical Benefits of Genetic Testing
Undergoing the CFAP53 Gene Heterotaxy Visceral Type 6 test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms genetic basis for organ positioning abnormalities
- Personalized Treatment: Guides surgical planning and medical management
- Family Planning: Provides recurrence risk information for future pregnancies
- Early Intervention: Enables proactive monitoring for associated complications
- Comprehensive Care: Facilitates multidisciplinary approach to management
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your results:
- Positive Result: Identifies a pathogenic mutation in CFAP53 gene, confirming heterotaxy visceral type 6 diagnosis
- Negative Result: No mutation detected in CFAP53 gene, though other genetic causes may be considered
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of mutated gene without symptoms
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CFAP53 Gene Heterotaxy Visceral Type 6 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 |
| Specialty | Pediatrics |
| Department | Genetics |
| Method | NGS Technology |
| Disease Type | Dysmorphology |
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of test implications and potential outcomes
- Informed consent process
Nationwide Accessibility
We have diagnostic centers conveniently located throughout the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services for patients across the country.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our CFAP53 Gene Heterotaxy Visceral Type 6 NGS Genetic DNA Test provides the answers you need for informed medical care and family planning. Our experienced genetic counselors are available to discuss your specific situation and guide you through the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test or speak with our genetic specialists. Take control of your genetic health with comprehensive, accurate testing from America’s leading genetics laboratory.
