WAC Gene DeSanto-Shinawi Syndrome NGS Genetic DNA Test

Comprehensive Genetic Testing for Developmental Disorders

The WAC Gene DeSanto-Shinawi Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic tool in pediatric genetics, utilizing advanced next-generation sequencing technology to identify mutations in the WAC gene. This comprehensive genetic analysis plays a crucial role in diagnosing DeSanto-Shinawi syndrome, a rare neurodevelopmental disorder characterized by distinctive clinical features and developmental challenges.

What Does This Test Measure and Detect?

This sophisticated genetic test specifically targets the WAC gene, which encodes the WW domain-containing adaptor with coiled-coil protein. Through next-generation sequencing technology, the test identifies:

• Pathogenic variants and mutations in the WAC gene
• Single nucleotide variants (SNVs) associated with DeSanto-Shinawi syndrome
• Small insertions and deletions that may disrupt gene function
• Copy number variations affecting the WAC gene region

The test provides comprehensive coverage of the entire coding region and critical regulatory elements of the WAC gene, ensuring high detection rates for clinically significant variants.

Who Should Consider This Genetic Test?

This test is particularly recommended for individuals presenting with the following symptoms and clinical features:

• Children with global developmental delays and intellectual disabilities
• Individuals with distinctive facial dysmorphic features including prominent forehead, deep-set eyes, and full cheeks
• Patients exhibiting behavioral characteristics such as autism spectrum features or attention deficits
• Children with growth abnormalities including short stature or microcephaly
• Individuals with hypotonia (low muscle tone) and motor coordination difficulties
• Patients with speech and language delays beyond typical developmental patterns
• Those with a family history suggestive of autosomal dominant inheritance patterns

Significant Benefits of Genetic Testing

Undergoing the WAC Gene DeSanto-Shinawi Syndrome NGS Genetic DNA Test offers numerous advantages for patients and families:

• Accurate Diagnosis: Provides definitive genetic confirmation of DeSanto-Shinawi syndrome, eliminating diagnostic uncertainty
• Personalized Care Planning: Enables healthcare providers to develop targeted intervention strategies based on specific genetic findings
• Family Planning Guidance: Offers valuable information for genetic counseling and reproductive decision-making
• Early Intervention Opportunities: Facilitates timely access to appropriate therapies and educational support services
• Prognostic Information: Helps establish realistic expectations for developmental progress and long-term outcomes
• Research Contribution: Contributes to expanding knowledge about rare genetic disorders and potential treatment approaches

Understanding Your Test Results

After completing the WAC Gene DeSanto-Shinawi Syndrome NGS Genetic DNA Test, you will receive comprehensive results interpreted by our expert geneticists:

• Positive Result: Indicates the presence of a pathogenic variant in the WAC gene consistent with DeSanto-Shinawi syndrome diagnosis
• Negative Result: Suggests no disease-causing variants were detected in the WAC gene, though clinical correlation remains essential
• Variant of Uncertain Significance (VUS): Identifies genetic changes whose clinical significance requires further investigation and family studies
• Carrier Status: May identify individuals who carry the genetic variant but may not exhibit full clinical symptoms

All results include detailed interpretation and recommendations for clinical management, with genetic counseling available to help families understand the implications of their genetic findings.

Test Details and Pricing

Pre-Test Requirements and Preparation

To ensure optimal testing outcomes, please note the following pre-test requirements:

• Complete clinical history documentation for the patient undergoing testing
• Participation in a genetic counseling session to discuss testing implications
• Development of a detailed pedigree chart documenting family members affected by or suspected of having WAC gene-related conditions
• Informed consent process explaining test benefits, limitations, and potential outcomes

Nationwide Testing Availability

We proudly offer the WAC Gene DeSanto-Shinawi Syndrome NGS Genetic DNA Test across our extensive network of testing facilities throughout the United States. Our state-of-the-art laboratories and collection centers are conveniently located in major metropolitan areas including:

• New York City and surrounding regions
• Los Angeles and Southern California
• Chicago and the Midwest
• Houston and Texas locations
• Phoenix and Arizona facilities
• All other major cities nationwide

Our commitment to accessibility ensures that patients and families can access this advanced genetic testing regardless of their geographic location.

Take the Next Step Toward Genetic Clarity

If you or your child are experiencing symptoms suggestive of DeSanto-Shinawi syndrome or have concerns about developmental delays and dysmorphic features, the WAC Gene NGS Genetic DNA Test can provide the answers you need. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results.

Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the WAC Gene DeSanto-Shinawi Syndrome NGS Genetic DNA Test. Take advantage of our special discounted price of $500 USD and begin your journey toward genetic understanding and personalized care.