PKD1L1 Gene Heterotaxy Visceral Type 8 Autosomal NGS Genetic DNA Test
Comprehensive Genetic Analysis for Organ Positioning Disorders
The PKD1L1 Gene Heterotaxy Visceral Type 8 Autosomal NGS Genetic DNA Test represents a cutting-edge diagnostic tool for identifying mutations in the PKD1L1 gene, which plays a critical role in establishing left-right body asymmetry during embryonic development. This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to provide comprehensive analysis of autosomal recessive inheritance patterns associated with heterotaxy syndrome type 8.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the PKD1L1 gene, which encodes a protein essential for proper organ positioning and development. The test detects:
- Pathogenic variants and mutations in the PKD1L1 gene
- Autosomal recessive inheritance patterns
- Genetic markers associated with visceral heterotaxy
- Specific mutations linked to organ malposition syndromes
- Variants affecting ciliary function and embryonic patterning
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Unexplained organ positioning abnormalities
- Complex congenital heart defects
- Family history of heterotaxy or situs inversus
- Multiple congenital anomalies involving heart, lungs, or abdominal organs
- Suspected ciliopathy disorders
- Recurrent respiratory or gastrointestinal complications
- Developmental delays with organ malposition
Clinical Benefits of Genetic Testing
Undergoing the PKD1L1 genetic test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms genetic basis for heterotaxy symptoms
- Family Planning: Enables informed reproductive decisions
- Medical Management: Guides specialized care for affected organs
- Surgical Planning: Assists in preparing for complex procedures
- Genetic Counseling: Provides family risk assessment
- Early Intervention: Facilitates timely medical interventions
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists:
- Positive Result: Indicates presence of pathogenic PKD1L1 mutations, confirming heterotaxy visceral type 8 diagnosis
- Negative Result: Suggests absence of detectable PKD1L1 mutations, though other genetic causes may be considered
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if you carry one copy of the mutated gene
All results include comprehensive genetic counseling to ensure proper understanding and next steps.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | PKD1L1 Gene Heterotaxy Visceral Type 8 Autosomal 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 |
Nationwide Testing Availability
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 testing facilities ensures accessible, reliable testing nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your health decisions. Our specialized PKD1L1 genetic testing provides the clarity needed for proper diagnosis and management of heterotaxy disorders. With our discounted pricing and comprehensive genetic counseling services, you can make informed decisions about your health and family planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your genetic health.
Our team of genetic specialists is ready to guide you through the testing process, from pre-test counseling to result interpretation and ongoing support. Book your appointment now and gain valuable insights into your genetic makeup.
