PIGN Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Developmental Disorders
The PIGN Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 NGS Genetic DNA Test represents a breakthrough in pediatric genetic diagnostics. This sophisticated test utilizes next-generation sequencing technology to identify mutations in the PIGN gene, which plays a critical role in glycosylphosphatidylinositol (GPI) anchor biosynthesis. Disruptions in this essential biological process can lead to severe developmental abnormalities affecting multiple organ systems.
What This Test Measures and Detects
This advanced genetic test specifically targets the PIGN gene located on chromosome 18, analyzing its complete coding sequence to identify pathogenic variants including:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the PIGN gene
- Compound heterozygous mutations
- Autosomal recessive inheritance patterns
The test provides comprehensive coverage of all exons and flanking intronic regions, ensuring high sensitivity for detecting clinically relevant variants associated with this rare neurodevelopmental disorder.
Who Should Consider This Test
This genetic test is recommended for infants and children presenting with the following clinical features:
- Multiple congenital anomalies affecting various organ systems
- Severe hypotonia (muscle weakness) present from birth
- Recurrent seizures or epileptic encephalopathy
- Developmental delays and intellectual disability
- Distinctive facial dysmorphic features
- Growth retardation and failure to thrive
- Structural brain abnormalities detected on imaging
- Family history of similar neurological conditions
Clinical Benefits of Genetic Testing
Obtaining a definitive genetic diagnosis through this test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms the specific genetic cause of symptoms, eliminating diagnostic uncertainty
- Personalized Treatment: Enables targeted therapeutic interventions and management strategies
- Prognostic Information: Provides insight into disease progression and expected outcomes
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely implementation of supportive therapies and educational plans
- Research Participation: Opens opportunities for clinical trials and emerging treatments
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your test results effectively:
- Positive Result: Identifies pathogenic mutations in the PIGN gene, confirming the diagnosis and enabling targeted management
- Negative Result: No mutations detected in the PIGN gene, suggesting alternative genetic or non-genetic causes
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Test Pricing and Availability
| Price Type | Amount (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
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Scheduled genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with similar symptoms
- Recent clinical evaluations and diagnostic reports
Nationwide Testing Availability
We have conveniently located testing facilities across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our state-of-the-art laboratories ensure consistent, high-quality testing regardless of location.
Take the Next Step Toward Diagnosis
Don’t let diagnostic uncertainty delay appropriate care for your child. Our specialized pediatric genetics team is ready to help you navigate this complex genetic condition. Contact us today to schedule your genetic counseling session and testing appointment.
Call or WhatsApp: +1(267) 388-9828
Book Your Test Today for Comprehensive Genetic Answers
Early genetic diagnosis can make a significant difference in managing PIGN-related disorders and improving quality of life. Trust our expertise in pediatric dysmorphology and genetic testing to provide the answers your family deserves.
