PIGT Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3 NGS Genetic DNA Test
Comprehensive Introduction to PIGT Gene Testing
The PIGT Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3 NGS Genetic DNA Test represents a significant advancement in neurological genetic diagnostics. This specialized test focuses on identifying mutations in the PIGT gene, which plays a crucial role in the glycosylphosphatidylinositol (GPI) anchor biosynthesis pathway. Disruptions in this pathway lead to the development of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3, a rare autosomal recessive disorder characterized by multiple physical abnormalities, severe muscle weakness, and neurological complications.
This test is particularly important because early diagnosis can significantly impact treatment outcomes and quality of life. The PIGT gene encodes a protein essential for proper cell membrane anchoring of various proteins, and mutations can disrupt multiple physiological processes, leading to the complex symptom profile associated with this syndrome.
What the Test Measures and Detects
Our advanced NGS Genetic DNA Test specifically targets:
- Comprehensive sequencing of the entire PIGT gene coding region
- Detection of point mutations, insertions, and deletions
- Identification of compound heterozygous mutations
- Analysis of splice site variants affecting gene expression
- Assessment of mutation impact on GPI-anchored protein function
The test utilizes state-of-the-art Next-Generation Sequencing technology, providing high-resolution analysis of the PIGT gene with exceptional accuracy and reliability. This comprehensive approach ensures that even rare or novel mutations are detected, providing families with definitive diagnostic information.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Multiple congenital anomalies present at birth
- Severe hypotonia (muscle weakness) in infancy
- Recurrent seizures or epileptic episodes
- Developmental delays and intellectual disability
- Facial dysmorphism and skeletal abnormalities
- Family history of similar neurological conditions
- Unexplained multiple organ system involvement
- Consanguineous parentage with neurological symptoms
Specific Patient Populations
The test is particularly valuable for:
- Infants and children with unexplained multiple anomalies
- Patients with suspected GPI anchor deficiency disorders
- Families seeking genetic counseling for recurrence risk
- Individuals with negative results from broader genetic panels
- Patients requiring definitive diagnosis for treatment planning
Benefits of Taking the PIGT Gene Test
Undergoing this specialized genetic testing provides numerous advantages:
- Definitive Diagnosis: Provides conclusive evidence for PIGT-related disorders
- Personalized Treatment: Enables targeted therapeutic interventions
- Family Planning: Offers crucial information for genetic counseling and recurrence risk assessment
- Early Intervention: Facilitates timely management of symptoms and complications
- Research Contribution: Helps advance understanding of rare neurological disorders
- Insurance Support: Provides documentation for medical necessity and coverage
- Peace of Mind: Reduces diagnostic uncertainty for families
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic counseling support helps you understand your results:
- Positive Result: Indicates the presence of pathogenic mutations in the PIGT gene, confirming the diagnosis of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3
- Negative Result: Suggests that PIGT gene mutations are not detected, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if an individual carries one copy of a mutated gene without showing symptoms
Clinical Implications
Positive results typically indicate:
- Autosomal recessive inheritance pattern
- 25% recurrence risk for future pregnancies
- Need for specialized neurological care
- Potential for targeted symptom management
- Eligibility for specialized support services
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or Blood on FTA Card |
Nationwide Testing Availability
We have branches across all major cities in the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more. Our extensive network ensures convenient access to this specialized genetic testing regardless of your location.
Take Action Today
Don’t let diagnostic uncertainty delay proper care. Our team of genetic specialists and neurologists is ready to provide comprehensive support throughout your testing journey. Schedule your genetic counseling session and book your PIGT Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3 NGS Genetic DNA Test today.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your appointment and take the first step toward definitive diagnosis and personalized care.
Pre-Test Requirements
Before testing, please ensure:
- Complete clinical history documentation
- Genetic counseling session scheduled
- Family pedigree chart prepared
- Informed consent obtained
- Insurance pre-authorization if required
Our dedicated team will guide you through every step of the process, from initial consultation to result interpretation and follow-up care planning.
