Maternal UPD Chromosome 7 Gene Silver-Russell Syndrome NGS Genetic DNA Test

Comprehensive Genetic Testing for Growth Disorders

The Maternal UPD Chromosome 7 Silver-Russell Syndrome NGS Genetic DNA Test represents a breakthrough in pediatric genetic diagnostics, offering precise detection of uniparental disomy affecting chromosome 7. This sophisticated testing methodology provides crucial insights for families and healthcare providers managing complex growth and developmental conditions.

What is Maternal UPD Chromosome 7?

Uniparental disomy (UPD) occurs when an individual inherits both copies of a chromosome from a single parent, rather than one copy from each parent. Maternal UPD of chromosome 7 specifically involves inheriting both chromosome 7 copies from the mother, with no paternal contribution. This genetic anomaly disrupts normal imprinting patterns and gene expression, leading to the characteristic features of Silver-Russell syndrome.

What the Test Detects

Our advanced NGS-based testing platform specifically identifies:

• Complete maternal uniparental disomy of chromosome 7
• Segmental UPD affecting critical regions of chromosome 7
• Imprinting center abnormalities on chromosome 7
• Genetic markers associated with Silver-Russell syndrome phenotype

Clinical Significance and Importance

Early detection of maternal UPD chromosome 7 is crucial for implementing appropriate medical interventions. This condition affects approximately 7-10% of individuals diagnosed with Silver-Russell syndrome, making accurate genetic testing essential for proper diagnosis and management.

Who Should Consider This Test?

This genetic test is recommended for individuals presenting with:

• Intrauterine Growth Restriction: Significant growth limitations before birth
• Postnatal Growth Failure: Failure to thrive and persistent growth below expected percentiles
• Characteristic Facial Features: Triangular face, prominent forehead, small chin
• Body Asymmetry: Limb length discrepancies or hemihypotrophy
• Feeding Difficulties: Poor appetite and gastrointestinal issues in infancy
• Developmental Concerns: Motor delays or learning challenges
• Family History: Suspected genetic inheritance patterns

Benefits of Genetic Testing

Undergoing the Maternal UPD Chromosome 7 test provides numerous advantages:

• Definitive Diagnosis: Confirms or rules out Silver-Russell syndrome with high accuracy
• Personalized Treatment: Enables targeted growth hormone therapy and nutritional support
• Family Planning: Provides recurrence risk information for future pregnancies
• Early Intervention: Facilitates timely developmental support and educational planning
• Comprehensive Care: Guides multidisciplinary management approach
• Psychological Relief: Reduces diagnostic uncertainty for families

Understanding Your Test Results

Our comprehensive genetic counseling services help you interpret your results:

Positive Result

A positive finding indicates the presence of maternal UPD chromosome 7, confirming Silver-Russell syndrome diagnosis. This result enables:

• Implementation of growth monitoring protocols
• Consideration of growth hormone therapy
• Development of individualized educational plans
• Regular screening for associated health concerns

Negative Result

A negative result excludes maternal UPD chromosome 7 as the cause of symptoms, guiding further investigation toward other genetic or environmental factors contributing to growth concerns.

Inconclusive Results

Rarely, results may require additional testing or interpretation by our expert geneticists to provide definitive answers.

Test Pricing and Availability

Test Specifications

• Turnaround Time: 3 to 4 Weeks
• Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
• Technology: Next-Generation Sequencing (NGS)
• Specialty: Pediatric Genetics
• Department: Genetics
• Method: NGS Technology
• Disease Type: Dysmorphology

Pre-Test Requirements

Before testing, we recommend:

• Comprehensive clinical history documentation
• Genetic counseling session with our specialists
• Development of detailed family pedigree chart
• Discussion of testing implications and potential outcomes

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 cities. Our network of certified genetic counselors and medical professionals ensures consistent, high-quality care regardless of location.

Take the Next Step Toward Answers

If you suspect Silver-Russell syndrome or have concerns about growth and development patterns, our Maternal UPD Chromosome 7 Genetic DNA Test provides the clarity needed for informed medical decisions. Early diagnosis can significantly impact treatment outcomes and quality of life.