CPLANE1 Gene Joubert Syndrome Type 17 NGS Genetic DNA Test

Comprehensive Genetic Testing for Joubert Syndrome Type 17

The CPLANE1 Gene Joubert Syndrome Type 17 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations in the CPLANE1 gene responsible for Joubert Syndrome Type 17. This rare autosomal recessive disorder affects brain development and function, specifically targeting the cerebellar vermis and brainstem. Our advanced testing methodology provides families and healthcare providers with definitive genetic information crucial for accurate diagnosis and personalized treatment planning.

What Does This Test Measure and Detect?

This sophisticated genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the CPLANE1 gene for pathogenic variants. The test specifically identifies:

• Point mutations and single nucleotide variants in the CPLANE1 gene
• Small insertions and deletions affecting gene function
• Copy number variations that may disrupt normal gene expression
• Compound heterozygous mutations associated with autosomal recessive inheritance
• Novel variants of uncertain significance requiring clinical correlation

Who Should Consider This Genetic Test?

This specialized genetic testing is recommended for individuals presenting with symptoms suggestive of Joubert Syndrome Type 17, including:

• Infants and children with developmental delays and hypotonia
• Individuals exhibiting abnormal eye movements (nystagmus) and breathing irregularities
• Patients with coordination difficulties and ataxia
• Children with the characteristic “molar tooth sign” on brain MRI
• Individuals with family history of Joubert Syndrome or related neurological disorders
• Couples with previous affected children planning future pregnancies

Significant Benefits of Early Genetic Testing

Undergoing the CPLANE1 Gene Joubert Syndrome Type 17 NGS Genetic DNA Test provides numerous advantages for patients and families:

• Accurate Diagnosis: Provides definitive genetic confirmation of Joubert Syndrome Type 17
• Early Intervention: Enables timely implementation of appropriate therapies and support services
• Family Planning: Offers crucial information for genetic counseling and reproductive decisions
• Personalized Care: Facilitates development of targeted management strategies
• Prognostic Information: Helps predict disease progression and potential complications
• Research Contribution: Contributes to ongoing understanding of rare neurological disorders

Understanding Your Test Results

Our comprehensive genetic testing report provides detailed interpretation of your results with clear clinical guidance:

• Positive Result: Indicates the presence of pathogenic mutations in the CPLANE1 gene, confirming Joubert Syndrome Type 17 diagnosis
• Negative Result: Suggests absence of detectable mutations in the CPLANE1 gene, though clinical correlation remains essential
• Variant of Uncertain Significance: Identifies genetic changes requiring additional family studies and clinical evaluation
• Carrier Status: Determines if individuals carry a single copy of mutated gene without disease manifestation

All results include detailed genetic counseling sessions to ensure complete understanding and appropriate next steps.

Test Pricing and Availability

Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-test Requirements: Clinical History and Genetic Counseling Session

Nationwide Testing Availability

We proudly offer comprehensive genetic testing services across all major cities in the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.

Take the Next Step Toward Genetic Clarity

Don’t let uncertainty about neurological symptoms affect your quality of life. Our expert team of genetic counselors and neurologists is ready to provide comprehensive testing and support. Schedule your CPLANE1 Gene Joubert Syndrome Type 17 NGS Genetic DNA Test today and gain the genetic clarity needed for informed healthcare decisions.

Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or learn more about our specialized neurological genetic testing services.