PIGL Gene CHIME Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for CHIME Syndrome Diagnosis
The PIGL Gene CHIME Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the PIGL (Phosphatidylinositol Glycan Anchor Biosynthesis Class L) gene, which is responsible for CHIME syndrome. This rare neuroectodermal disorder, also known as Zunich neuroectodermal syndrome, is characterized by a distinct constellation of symptoms affecting multiple body systems. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting genetic variants associated with this complex condition.
What Does the PIGL Gene CHIME Syndrome Test Detect?
This comprehensive genetic test specifically targets and analyzes the PIGL gene using sophisticated next-generation sequencing (NGS) technology. The test identifies:
- Pathogenic mutations in the PIGL gene responsible for CHIME syndrome
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations affecting the PIGL gene region
- Autosomal recessive inheritance patterns characteristic of CHIME syndrome
- Glycosylphosphatidylinositol (GPI) anchor biosynthesis pathway disruptions
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with symptoms suggestive of CHIME syndrome, including:
- Infants and children with ocular colobomas affecting the retina, iris, or choroid
- Individuals with congenital heart defects, particularly complex cardiac abnormalities
- Patients exhibiting ichthyosiform dermatosis or other skin abnormalities
- Children showing signs of intellectual disability or developmental delays
- Individuals with ear anomalies or hearing impairments
- Patients with distinctive facial features associated with neuroectodermal disorders
- Families with history of CHIME syndrome or related genetic conditions
- Couples planning pregnancy with known family history of genetic disorders
Clinical Benefits of PIGL Gene Testing
Undergoing the PIGL Gene CHIME Syndrome NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out CHIME syndrome with high precision
- Early Intervention: Enables timely medical management and treatment planning
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Facilitates development of targeted treatment strategies
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Indicates presence of pathogenic mutations in the PIGL gene, confirming CHIME syndrome diagnosis
- Negative Result: Suggests absence of detectable mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of mutated gene without showing symptoms
All results are accompanied by detailed explanations and recommendations for follow-up care, including referral to appropriate specialists and genetic counseling services.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | PIGL Gene CHIME Syndrome 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Nationwide Testing Availability
We have branches across the United States, making 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, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Take the Next Step Toward Genetic Clarity
If you or your loved one is experiencing symptoms suggestive of CHIME syndrome or has a family history of genetic disorders, don’t wait to get the answers you need. Our comprehensive PIGL Gene CHIME Syndrome NGS Genetic DNA Test provides the clarity required for informed medical decisions and personalized care planning.
Book your genetic test today by calling our dedicated genetic counseling team at +1(267) 388-9828 or schedule your appointment online. Take control of your genetic health with confidence and precision.
