MAGEL2 Gene Schaaf-Yang Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurodevelopmental Disorders
The MAGEL2 Gene Schaaf-Yang Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare neurodevelopmental conditions. This advanced testing method provides crucial insights into the genetic basis of Schaaf-Yang syndrome, enabling accurate diagnosis and personalized treatment approaches for affected individuals and their families.
What is MAGEL2 Gene Schaaf-Yang Syndrome?
Schaaf-Yang syndrome is a rare genetic disorder caused by mutations in the MAGEL2 gene, located on chromosome 15. This condition falls within the spectrum of Prader-Willi-like syndromes and is characterized by distinctive clinical features including developmental delay, intellectual disability, autism spectrum disorder characteristics, and specific physical manifestations. The MAGEL2 gene plays a critical role in neurological development and function, making accurate genetic testing essential for proper diagnosis and management.
What Does This Test Measure and Detect?
Our comprehensive NGS Genetic DNA Test specifically targets and analyzes the MAGEL2 gene using state-of-the-art Next-Generation Sequencing technology. The test detects:
- Pathogenic variants and mutations in the MAGEL2 gene
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations affecting the MAGEL2 gene region
- Novel genetic alterations associated with Schaaf-Yang syndrome
- Inheritance patterns and familial risk assessment
The test provides comprehensive coverage of the entire MAGEL2 gene coding region, ensuring high detection rates for both known and novel mutations associated with this rare neurodevelopmental disorder.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with the following symptoms or clinical features:
- Infants and children with developmental delay or intellectual disability
- Individuals with autism spectrum disorder characteristics
- Patients exhibiting distinctive facial features including prominent forehead, down-slanting palpebral fissures, and thin upper lip
- Children with feeding difficulties in infancy and hyperphagia in later childhood
- Individuals with joint contractures or reduced fetal movements
- Patients with sleep disturbances or respiratory issues
- Those with a family history of neurodevelopmental disorders
- Individuals with suspected Prader-Willi syndrome but negative for 15q11-q13 deletion
Benefits of MAGEL2 Genetic Testing
Undergoing the MAGEL2 Gene Schaaf-Yang Syndrome NGS Genetic DNA Test offers numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive genetic confirmation of Schaaf-Yang syndrome
- Personalized Treatment: Enables targeted interventions and management strategies
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely access to appropriate therapies and support services
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Contributes to ongoing scientific understanding of rare genetic disorders
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic counseling services help you understand your test results:
- Positive Result: Indicates the presence of a pathogenic MAGEL2 gene mutation consistent with Schaaf-Yang syndrome diagnosis
- Negative Result: Suggests that MAGEL2 gene mutations were not detected, though other genetic causes should be considered
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical significance requiring further evaluation
- Carrier Status: Provides information about inheritance patterns and familial risk assessment
All results are accompanied by detailed interpretation and recommendations from our board-certified genetic counselors and clinical geneticists.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | MAGEL2 Gene Schaaf-Yang Syndrome NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Pediatric Genetics |
Pre-Test Requirements and Preparation
Before scheduling your MAGEL2 Gene Schaaf-Yang Syndrome NGS Genetic DNA Test, please ensure:
- Complete clinical history documentation of the patient
- Participation in a genetic counseling session to discuss testing implications
- Development of a detailed pedigree chart documenting family members affected with similar symptoms
- Understanding of test limitations and potential outcomes
- Informed consent process completion
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic testing facilities ensures consistent quality and reliable results nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurodevelopmental symptoms delay proper diagnosis and treatment. Our MAGEL2 Gene Schaaf-Yang Syndrome NGS Genetic DNA Test provides the answers families need to make informed healthcare decisions and access appropriate support services.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our compassionate genetic specialists are ready to guide you through every step of the testing process and help you understand your results.
Take control of your genetic health journey with comprehensive, accurate testing from America’s leading genetic diagnostics provider. Book your test now and receive the clarity you deserve for only $500 USD.
