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CASK Gene Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia Genetic Test

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

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The CASK Gene Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia NGS Genetic DNA Test is a comprehensive diagnostic tool that identifies mutations in the CASK gene associated with severe neurological disorders. This advanced next-generation sequencing test detects genetic abnormalities responsible for intellectual disability, microcephaly (small head size), and brain structure abnormalities affecting the pons and cerebellum. The test is crucial for individuals showing developmental delays, cognitive impairments, and neurological symptoms. Benefits include accurate diagnosis, personalized treatment planning, genetic counseling guidance, and family risk assessment. Available for $500 USD, this test provides valuable insights for managing complex neurological conditions and making informed healthcare decisions.

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CASK Gene Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia NGS Genetic DNA Test

Comprehensive Genetic Testing for Neurological Disorders

The CASK Gene Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced testing method utilizes next-generation sequencing technology to identify mutations in the CASK (calcium/calmodulin-dependent serine protein kinase) gene, which plays a critical role in brain development and function.

What Does This Test Measure?

This comprehensive genetic test specifically targets the CASK gene to detect:

  • Point mutations and small insertions/deletions in the CASK gene
  • Genetic variants associated with X-linked mental retardation
  • Mutations causing microcephaly with pontine and cerebellar hypoplasia
  • Pathogenic variants affecting brain structure development
  • Inheritance patterns for family planning purposes

Who Should Consider This Test?

This genetic test is recommended for individuals presenting with:

  • Unexplained developmental delays and intellectual disability
  • Microcephaly (abnormally small head circumference)
  • Neurological symptoms including seizures or movement disorders
  • Family history of X-linked intellectual disability
  • Abnormal brain MRI findings showing pontine and cerebellar hypoplasia
  • Speech and language development delays
  • Motor coordination difficulties

Clinical Benefits of CASK Gene Testing

Undergoing this genetic test provides numerous clinical advantages:

  • Accurate Diagnosis: Provides definitive genetic confirmation of CASK-related disorders
  • Personalized Treatment: Enables targeted therapeutic interventions and management strategies
  • Family Planning: Offers crucial information for genetic counseling and reproductive decisions
  • Prognostic Insights: Helps predict disease progression and potential complications
  • Early Intervention: Facilitates timely implementation of supportive therapies and educational programs

Understanding Your Test Results

Your genetic test results will be carefully interpreted by our expert genetic counselors and neurologists:

  • Positive Result: Indicates the presence of a pathogenic CASK gene mutation, confirming the diagnosis
  • Negative Result: Suggests that CASK gene mutations are not the cause of symptoms, guiding further diagnostic evaluation
  • Variant of Uncertain Significance: Requires additional family studies and ongoing research correlation
  • Carrier Status: Identifies individuals who may pass the condition to offspring

Test Details and Pricing

Test Feature Details
Test Name CASK Gene Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 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 a detailed family pedigree chart
  • Discussion of testing implications with our genetic specialists
  • Understanding of potential outcomes and their significance

Nationwide Testing Availability

We provide comprehensive genetic testing services across the United States with convenient locations in major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure accurate and reliable results for patients nationwide.

Take the Next Step Toward Genetic Clarity

Don’t let uncertainty about neurological symptoms affect your quality of life. Our CASK gene testing provides the answers you need for informed medical decisions and personalized care planning. Contact our genetic specialists today to schedule your test and begin your journey toward genetic understanding.

Call or WhatsApp us now at +1(267) 388-9828 to book your CASK Gene Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia NGS Genetic DNA Test and take advantage of our special $500 USD pricing.

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