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UBE2A Gene Mental Retardation X-Linked Syndromic Nascimento-Type Genetic Test

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

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The UBE2A Gene Mental Retardation X-Linked Syndromic Nascimento-Type NGS Genetic DNA Test is a comprehensive diagnostic tool that identifies mutations in the UBE2A gene responsible for X-linked intellectual disability syndrome. This advanced next-generation sequencing test detects specific genetic variations that cause developmental delays, intellectual disability, and characteristic facial features associated with Nascimento-type syndrome. The test is crucial for families with a history of X-linked intellectual disability, providing definitive diagnosis and enabling informed family planning decisions. Results are available within 3-4 weeks from blood or DNA samples. The test is priced at $500 USD (discounted from $700 USD) and includes genetic counseling to help interpret results and understand inheritance patterns.

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UBE2A Gene Mental Retardation X-Linked Syndromic Nascimento-Type NGS Genetic DNA Test

Comprehensive Genetic Testing for X-Linked Intellectual Disability

The UBE2A Gene Mental Retardation X-Linked Syndromic Nascimento-Type NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for families affected by inherited intellectual disability conditions. This specialized test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the UBE2A gene, which plays a critical role in protein degradation and cellular regulation processes essential for normal neurological development.

What Does This Test Detect?

This comprehensive genetic analysis specifically targets the UBE2A gene located on the X chromosome, identifying pathogenic variants that cause X-linked syndromic mental retardation, Nascimento-type. The test detects:

  • Point mutations and small insertions/deletions in the UBE2A gene
  • Missense, nonsense, and frameshift mutations affecting protein function
  • Variants that disrupt the ubiquitin-conjugating enzyme E2A activity
  • Genetic changes associated with impaired neuronal development and function

Who Should Consider This Test?

This genetic test is recommended for individuals presenting with:

  • Unexplained intellectual disability or developmental delays
  • Family history of X-linked inheritance pattern of mental retardation
  • Characteristic facial features including prominent forehead, deep-set eyes, and thick eyebrows
  • Speech and language development delays
  • Behavioral abnormalities and social interaction difficulties
  • Motor coordination problems and mild physical abnormalities
  • Families planning pregnancy with known UBE2A gene mutations in their lineage

Clinical Benefits and Importance

Obtaining a definitive genetic diagnosis through UBE2A testing provides numerous clinical advantages:

  • Accurate Diagnosis: Confirms or rules out Nascimento-type syndromic mental retardation
  • Family Planning Guidance: Enables informed reproductive decisions and genetic counseling
  • Early Intervention: Facilitates timely educational and therapeutic interventions
  • Medical Management: Guides appropriate medical care and monitoring strategies
  • Genetic Counseling: Provides clarity on inheritance patterns and recurrence risks
  • Research Contribution: Advances understanding of rare genetic disorders

Understanding Your Test Results

Our comprehensive genetic counseling service helps you interpret your UBE2A gene test results:

  • Positive Result: Indicates the presence of a pathogenic UBE2A mutation, confirming the diagnosis of X-linked syndromic mental retardation, Nascimento-type
  • Negative Result: Suggests that UBE2A mutations are not the cause of the clinical symptoms, though other genetic causes should be considered
  • Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
  • Carrier Status: For female relatives, determines carrier status and transmission risk to offspring

Test Details and Pricing

Test Component Details
Test Name UBE2A Gene Mental Retardation X-Linked Syndromic Nascimento-Type NGS Genetic DNA Test
Regular Price $700 USD
Discount Price $500 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
Specialty Neurology and Genetics

Nationwide Accessibility

We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our network ensures that advanced genetic testing is accessible to families nationwide.

Take the Next Step Toward Genetic Clarity

Don’t let uncertainty about genetic conditions affect your family’s future. Our team of genetic specialists and neurologists is ready to provide comprehensive testing and counseling services. Schedule your UBE2A genetic test today to gain valuable insights into your genetic health and make informed decisions for your family’s wellbeing.

Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or discuss your testing options with our genetic counseling team.

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