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RNASEH2C Gene Aicardi-Goutieres Syndrome Type 3 Genetic Test

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

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The RNASEH2C Gene Aicardi-Goutieres Syndrome Type 3 NGS Genetic DNA Test is a cutting-edge diagnostic tool that identifies mutations in the RNASEH2C gene responsible for Aicardi-Goutieres Syndrome Type 3. This rare neurological disorder affects infants and young children, causing severe brain inflammation and developmental delays. Using Next-Generation Sequencing (NGS) technology, this test provides comprehensive analysis of the RNASEH2C gene to detect pathogenic variants. Early diagnosis through this $500 USD test enables timely intervention, appropriate medical management, and informed family planning decisions for at-risk individuals.

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RNASEH2C Gene Aicardi-Goutieres Syndrome Type 3 NGS Genetic DNA Test

Comprehensive Genetic Testing for Rare Neurological Disorders

The RNASEH2C Gene Aicardi-Goutieres Syndrome Type 3 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced testing method utilizes Next-Generation Sequencing (NGS) technology to analyze the RNASEH2C gene, which plays a critical role in maintaining neurological health and preventing autoimmune responses in the central nervous system.

What This Test Measures and Detects

This specialized genetic test specifically targets mutations in the RNASEH2C gene that are associated with Aicardi-Goutieres Syndrome Type 3. The test examines:

  • Point mutations and small insertions/deletions in the RNASEH2C gene
  • Pathogenic variants affecting ribonuclease H2 complex function
  • Genetic alterations that disrupt normal nucleic acid metabolism
  • Inheritance patterns for family risk assessment

Who Should Consider This Genetic Test

This test is particularly recommended for individuals presenting with:

  • Infants and children with unexplained neurological deterioration
  • Patients exhibiting symptoms of early-onset encephalopathy
  • Individuals with family history of Aicardi-Goutieres Syndrome
  • Children experiencing developmental regression or intellectual disability
  • Patients with intracranial calcifications or white matter abnormalities on brain imaging
  • Individuals with chilblain lesions or other cutaneous manifestations
  • Cases of suspected autoimmune encephalitis of unknown origin

Key Benefits of RNASEH2C Genetic Testing

  • Early and Accurate Diagnosis: Provides definitive diagnosis for complex neurological presentations
  • Family Planning Guidance: Enables informed reproductive decisions for at-risk families
  • Personalized Treatment Approaches: Guides targeted therapeutic interventions
  • Prognostic Information: Helps predict disease progression and outcomes
  • Genetic Counseling Support: Facilitates comprehensive family risk assessment

Understanding Your Test Results

Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists:

  • Positive Result: Indicates the presence of pathogenic RNASEH2C mutations, confirming Aicardi-Goutieres Syndrome Type 3 diagnosis
  • Negative Result: Suggests absence of known pathogenic variants in the RNASEH2C gene
  • Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
  • Carrier Status: Determines if an individual carries one copy of a mutated gene without showing symptoms

Test Pricing and Details

Test Feature Details
Test Name RNASEH2C Gene Aicardi-Goutieres Syndrome Type 3 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

Before scheduling your test, please ensure:

  • Complete clinical history documentation of the patient
  • Genetic counseling session to create detailed family pedigree chart
  • Discussion of testing implications with qualified healthcare provider
  • 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, and San Jose. Our network of certified collection centers ensures accessible genetic testing services nationwide.

Take the Next Step Toward Genetic Clarity

Don’t let uncertainty about neurological symptoms affect your family’s future. Our comprehensive RNASEH2C genetic testing provides the answers you need for informed medical decisions and peace of mind.

Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your neurological health journey.

Our team of genetic specialists and neurologists is ready to guide you through the testing process, from initial consultation to result interpretation and ongoing support. Book your appointment now and discover the power of precision genetic diagnostics.