GPC3 Gene Simpson-Golabi-Behmel Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurological Disorders
The GPC3 Gene Simpson-Golabi-Behmel Syndrome Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare neurological conditions. This advanced test utilizes next-generation sequencing (NGS) technology to analyze the GPC3 gene, which plays a critical role in cellular growth regulation and development. Simpson-Golabi-Behmel syndrome type 1 is an X-linked overgrowth disorder characterized by pre- and postnatal overgrowth, distinctive facial features, and various congenital abnormalities affecting multiple organ systems.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the GPC3 (glypican-3) gene located on the X chromosome. This test detects:
- Pathogenic variants and mutations in the GPC3 gene
- Single nucleotide polymorphisms (SNPs) associated with Simpson-Golabi-Behmel syndrome
- Insertions, deletions, and copy number variations
- Missense, nonsense, and frameshift mutations
- Regulatory region abnormalities affecting gene expression
The test provides complete coverage of all coding regions and critical regulatory elements of the GPC3 gene, ensuring comprehensive mutation detection with exceptional accuracy exceeding 99.9%.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with the following clinical indications:
- Pre- or postnatal overgrowth exceeding expected percentiles
- Characteristic facial features including macrocephaly, coarse facies, and wide-set eyes
- Congenital heart defects or structural abnormalities
- Developmental delays or intellectual disability
- Family history of X-linked inheritance patterns
- Suspected overgrowth syndromes with unclear diagnosis
- Unexplained organomegaly or skeletal abnormalities
- Prenatal testing for at-risk pregnancies
Clinical Benefits of Genetic Testing
Undergoing the GPC3 Gene Simpson-Golabi-Behmel Syndrome Type 1 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Simpson-Golabi-Behmel syndrome with high precision
- Personalized Treatment Planning: Enables targeted medical management and surveillance
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely medical interventions and specialized care
- Risk Assessment: Determines recurrence risks for family members
- Comprehensive Care Coordination: Supports multidisciplinary approach to patient management
Understanding Your Test Results
Our genetic testing laboratory provides comprehensive result interpretation with clear clinical guidance:
- Positive Result: Indicates the presence of a pathogenic mutation in the GPC3 gene, confirming Simpson-Golabi-Behmel syndrome type 1 diagnosis
- Negative Result: Suggests no detectable mutation in the GPC3 gene, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry the mutation without showing symptoms
All results include detailed interpretation by board-certified genetic specialists and recommendations for appropriate follow-up care and genetic counseling.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| GPC3 Gene Simpson-Golabi-Behmel Syndrome Type 1 NGS Genetic DNA Test – Discount Price | $500 |
| GPC3 Gene Simpson-Golabi-Behmel Syndrome Type 1 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York City, 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
Don’t let uncertainty about genetic conditions affect your health decisions. Our advanced GPC3 Gene Simpson-Golabi-Behmel Syndrome Type 1 NGS Genetic DNA Test provides the answers you need for informed medical care and family planning. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more convenient.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results with compassion and expertise.
