Chromosome 11p15 Gene Beckwith-Wiedemann Syndrome NGS Genetic DNA Test
Understanding Beckwith-Wiedemann Syndrome Genetic Testing
The Chromosome 11p15 Gene Beckwith-Wiedemann Syndrome NGS Genetic DNA Test represents a cutting-edge approach to diagnosing one of the most complex overgrowth disorders in pediatric genetics. Beckwith-Wiedemann syndrome (BWS) is characterized by a spectrum of clinical features including macrosomia, macroglossia, abdominal wall defects, and an increased predisposition to specific childhood cancers. This comprehensive genetic analysis focuses on the critical 11p15.5 chromosomal region, which contains several imprinted genes crucial for normal growth and development regulation.
What This Advanced Genetic Test Measures
Our NGS-based genetic test provides detailed analysis of the chromosome 11p15 region, specifically targeting:
- CDKN1C gene mutations and their impact on cell cycle regulation
- Imprinting control regions (IC1 and IC2) that regulate gene expression
- Epigenetic alterations including DNA methylation patterns
- Uniparental disomy (UPD) of chromosome 11p15
- Structural abnormalities within the 11p15.5 chromosomal region
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with one or more of the following clinical features:
- Macrosomia (overgrowth) at birth or during early childhood
- Macroglossia (enlarged tongue) affecting feeding or speech
- Abdominal wall defects including omphalocele or umbilical hernia
- Ear creases or pits suggesting developmental abnormalities
- Hypoglycemia in the neonatal period
- Organomegaly (enlarged organs) particularly liver, spleen, or kidneys
- Hemihypertrophy (asymmetric overgrowth of body parts)
- Family history of Beckwith-Wiedemann syndrome or related conditions
Comprehensive Benefits of Genetic Testing
Undergoing the Chromosome 11p15 Gene Beckwith-Wiedemann Syndrome NGS Genetic DNA Test provides numerous advantages:
- Early Cancer Risk Assessment: Identifies individuals at increased risk for embryonal tumors including Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma
- Personalized Surveillance Plans: Enables development of targeted cancer screening protocols based on specific genetic findings
- Family Planning Guidance: Provides crucial information for genetic counseling and recurrence risk assessment
- Accurate Diagnosis: Differentiates BWS from other overgrowth syndromes with similar clinical presentations
- Treatment Optimization: Guides appropriate management strategies for associated complications
Understanding Your Genetic Test Results
Interpretation and Clinical Implications
Our comprehensive genetic analysis provides detailed results with expert interpretation:
- Positive Result: Identification of pathogenic variants confirms Beckwith-Wiedemann syndrome diagnosis and enables implementation of appropriate surveillance protocols
- Negative Result: Absence of detectable mutations in the 11p15 region suggests alternative diagnoses should be considered
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or ongoing monitoring
- Mosaic Findings: Detection of mosaic patterns may explain variable clinical presentations
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | Chromosome 11p15 Gene Beckwith-Wiedemann 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 |
Pre-Test Requirements and Genetic Counseling
Before undergoing testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to discuss testing implications and create a detailed family pedigree
- Informed consent process explaining potential outcomes and limitations
- Discussion of insurance coverage and financial considerations
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and medical professionals ensures consistent, high-quality care regardless of location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our Chromosome 11p15 Gene Beckwith-Wiedemann Syndrome NGS Genetic DNA Test provides the answers you need for informed medical decisions and proactive health management.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our expert team is ready to guide you through every step of the process and provide the comprehensive genetic insights your family deserves.
