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RAI1 Gene Smith-Magenis Syndrome Genetic Test

Original price was: $700.Current price is: $500.

-29%

The RAI1 Gene Smith-Magenis Syndrome NGS Genetic DNA Test is a cutting-edge diagnostic tool that identifies mutations in the RAI1 gene responsible for Smith-Magenis syndrome. This comprehensive next-generation sequencing test provides definitive diagnosis for individuals experiencing developmental delays, sleep disturbances, behavioral challenges, and distinctive facial features. By detecting specific genetic abnormalities, the test enables early intervention, personalized treatment planning, and informed family counseling. The test costs $500 USD and delivers results within 3-4 weeks using blood, extracted DNA, or FTA card samples. Our specialized genetic counseling ensures proper interpretation and guidance throughout the testing process.

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RAI1 Gene Smith-Magenis Syndrome NGS Genetic DNA Test

Comprehensive Genetic Testing for Neurological Disorders

The RAI1 Gene Smith-Magenis Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for neurological conditions. This advanced test utilizes next-generation sequencing technology to identify mutations in the RAI1 gene, which plays a crucial role in neurological development and circadian rhythm regulation. Smith-Magenis syndrome is a complex neurodevelopmental disorder that affects multiple body systems, making accurate diagnosis essential for proper management and treatment planning.

What Does This Test Measure?

This sophisticated genetic test specifically targets the RAI1 (Retinoic Acid Induced 1) gene located on chromosome 17p11.2. The test detects:

  • Point mutations and small deletions/insertions in the RAI1 gene
  • Gene rearrangements affecting RAI1 function
  • Specific genetic variants associated with Smith-Magenis syndrome
  • Both inherited and de novo (new) mutations

Who Should Consider This Test?

Clinical Indications and Symptoms

This test is recommended for individuals presenting with the following symptoms:

  • Developmental delays and intellectual disability
  • Distinctive facial features (broad square face, deep-set eyes)
  • Sleep disturbances and inverted circadian rhythm
  • Behavioral challenges including self-harming behaviors
  • Speech and language delays
  • Motor coordination difficulties
  • Short stature and skeletal abnormalities
  • Hearing and vision problems

Benefits of RAI1 Genetic Testing

Early and accurate diagnosis through RAI1 genetic testing provides numerous advantages:

  • Definitive Diagnosis: Confirms Smith-Magenis syndrome with high accuracy
  • Personalized Treatment: Enables targeted interventions for specific symptoms
  • Family Planning: Provides genetic counseling information for family members
  • Early Intervention: Facilitates timely therapeutic approaches
  • Medical Management: Guides appropriate medical care and monitoring
  • Educational Support: Helps develop appropriate educational strategies

Understanding Your Test Results

Our comprehensive genetic counseling ensures you fully understand your test results:

  • Positive Result: Indicates a mutation in the RAI1 gene confirming Smith-Magenis syndrome diagnosis
  • Negative Result: Suggests absence of detectable RAI1 mutations, though clinical evaluation remains important
  • Variant of Uncertain Significance: Requires additional family studies and clinical correlation
  • Carrier Status: Important information for family planning decisions

Test Pricing and Details

Test Component Details
Test Name RAI1 Gene Smith-Magenis 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
Specialty Neurologist
Department Genetics
Method NGS Technology
Disease Type Neurological Disorders

Pre-Test Requirements

Before scheduling your test, please ensure:

  • Complete clinical history documentation
  • Genetic counseling session to create family pedigree chart
  • Discussion of testing implications with our genetic specialists
  • Understanding of potential outcomes and next steps

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, and San Jose. Our network of certified genetic counselors and neurologists ensures you receive expert care regardless of your location.

Take the Next Step Toward Diagnosis

If you or your loved one is experiencing symptoms suggestive of Smith-Magenis syndrome, don’t delay in seeking answers. Our comprehensive RAI1 genetic testing provides the clarity needed for proper diagnosis and management. Contact our genetic specialists today to schedule your consultation and testing.

Call or WhatsApp: +1(267) 388-9828 to book your RAI1 Gene Smith-Magenis Syndrome NGS Genetic DNA Test today. Our team is ready to guide you through the testing process and provide the expert care you deserve.

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