NRXN1 Gene Pitt-Hopkins Syndrome NGS Genetic DNA Test USA $500 | Comprehensive Neurodevelopmental Disorder Screening
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NRXN1 Gene Pitt-Hopkins Syndrome NGS Genetic DNA Test

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

-29%

The NRXN1 Gene Pitt-Hopkins Syndrome NGS Genetic DNA Test is a cutting-edge diagnostic tool that identifies mutations in the NRXN1 gene associated with Pitt-Hopkins syndrome, a rare neurodevelopmental disorder. This comprehensive test utilizes next-generation sequencing technology to provide precise genetic analysis for individuals presenting with developmental delays, intellectual disability, and characteristic facial features. The test helps confirm diagnosis, guide treatment strategies, and provide valuable information for family planning. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card blood drops, this test offers accessible genetic screening across the United States. The current discounted price is $500 USD, providing significant savings from the regular $700 USD cost.

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NRXN1 Gene Pitt-Hopkins Syndrome NGS Genetic DNA Test

Comprehensive Genetic Testing for Neurodevelopmental Disorders

The NRXN1 Gene Pitt-Hopkins Syndrome NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for neurodevelopmental conditions. This advanced genetic screening utilizes cutting-edge next-generation sequencing (NGS) technology to identify mutations in the NRXN1 gene, which plays a critical role in neural development and synaptic function. Pitt-Hopkins syndrome is a rare genetic disorder characterized by distinctive facial features, developmental delays, and intellectual disability, making accurate genetic diagnosis essential for proper management and treatment planning.

What This Test Measures and Detects

This comprehensive genetic analysis specifically targets the NRXN1 gene, which encodes neurexin-1, a crucial protein involved in synapse formation and neuronal communication. The test identifies:

  • Point mutations and small insertions/deletions in the NRXN1 gene
  • Copy number variations affecting NRXN1 expression
  • Pathogenic variants associated with Pitt-Hopkins syndrome
  • Genetic alterations impacting neurodevelopmental pathways

Using NGS technology provides superior sensitivity and specificity compared to traditional genetic testing methods, ensuring comprehensive coverage of the entire NRXN1 gene region.

Who Should Consider This Genetic Test

Clinical Indications and Symptoms

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

  • Developmental delays in motor skills and language acquisition
  • Intellectual disability of unknown etiology
  • Characteristic facial features including wide mouth, prominent Cupid’s bow, and broad nasal bridge
  • Breathing abnormalities such as hyperventilation or breath-holding spells
  • Seizures or epilepsy with unclear underlying cause
  • Autism spectrum disorder features
  • Family history of neurodevelopmental disorders
  • Unexplained dysmorphic features in pediatric patients

Key Benefits of NRXN1 Genetic Testing

Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:

  • Accurate Diagnosis: Confirms or rules out Pitt-Hopkins syndrome with high precision
  • Personalized Treatment Planning: Enables targeted interventions and therapies
  • Family Planning Guidance: Provides recurrence risk information for future pregnancies
  • Early Intervention: Facilitates timely access to specialized care and support services
  • Reduced Diagnostic Odyssey: Minimizes unnecessary medical testing and procedures
  • Comprehensive Genetic Counseling: Supports informed decision-making for families

Understanding Your Test Results

Interpretation and Clinical Implications

Your genetic test results will be carefully analyzed and interpreted by our team of board-certified genetic specialists. The report will include:

  • Positive Result: Identification of a pathogenic variant in the NRXN1 gene confirms Pitt-Hopkins syndrome diagnosis and enables targeted management strategies
  • Negative Result: Absence of detectable NRXN1 mutations suggests alternative diagnoses should be considered
  • Variant of Uncertain Significance: Some genetic changes may require additional family studies or research correlation
  • Comprehensive Clinical Correlation: Results are interpreted in the context of clinical presentation and family history

All positive results include detailed genetic counseling to help families understand the implications and next steps.

Test Details and Pricing

Test Component Details
Test Name NRXN1 Gene Pitt-Hopkins 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 Pediatrics
Department Genetics
Method NGS Technology
Disease Type Dysmorphology

Pre-Test Requirements and Preparation

To ensure optimal testing conditions and accurate results, please note the following requirements:

  • Complete clinical history of the patient undergoing testing
  • Genetic counseling session to document family pedigree
  • Identification of family members affected by neurodevelopmental disorders
  • Informed consent for genetic testing and result disclosure

Nationwide Accessibility and Convenience

General Genetics Corporation maintains testing facilities and collection centers across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our network ensures convenient access to this specialized genetic testing regardless of your location.

Take the Next Step Toward Genetic Clarity

If you or your loved one is experiencing symptoms suggestive of Pitt-Hopkins syndrome or other neurodevelopmental disorders, don’t delay in seeking genetic answers. Our team of genetic specialists is ready to provide comprehensive testing and support throughout your diagnostic journey.

Call or WhatsApp us today at +1(267) 388-9828 to schedule your NRXN1 Gene Pitt-Hopkins Syndrome NGS Genetic DNA Test and take advantage of our current discounted pricing of $500 USD.

Early genetic diagnosis can make a significant difference in treatment outcomes and quality of life. Trust General Genetics Corporation for accurate, reliable genetic testing backed by cutting-edge technology and expert clinical interpretation.

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