KIF7 Gene Acrocallosal Syndrome NGS Genetic DNA Test

Comprehensive Genetic Testing for Neurological Disorders

The KIF7 Gene Acrocallosal Syndrome NGS Genetic DNA Test represents a breakthrough in precision medicine for neurological genetic disorders. This advanced diagnostic tool utilizes next-generation sequencing technology to identify mutations in the KIF7 gene, which plays a critical role in brain development and cellular signaling pathways. Acrocallosal Syndrome is a rare autosomal recessive condition characterized by distinctive physical features and neurological abnormalities, making accurate genetic diagnosis essential for proper management and family planning.

What Does This Test Measure and Detect?

This sophisticated genetic test specifically targets and analyzes the KIF7 gene for pathogenic variants that cause Acrocallosal Syndrome. The test detects:

• Point mutations, insertions, and deletions in the KIF7 gene
• Autosomal recessive inheritance patterns
• Genetic variants associated with brain malformations
• Mutations affecting ciliary function and Hedgehog signaling pathways
• Both known pathogenic variants and novel mutations

Who Should Consider This Test?

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

• Infants and children with developmental delays and intellectual disability
• Patients with agenesis of the corpus callosum (complete or partial)
• Individuals exhibiting polydactyly (extra fingers or toes)
• Those with distinctive facial features including macrocephaly, prominent forehead, and hypertelorism
• Patients with hypotonia (low muscle tone) and motor coordination difficulties
• Individuals with a family history of Acrocallosal Syndrome or similar neurological conditions
• Couples with a previous child affected by the syndrome considering future pregnancies

Benefits of KIF7 Genetic Testing

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

• Accurate Diagnosis: Confirms or rules out Acrocallosal Syndrome with high precision
• Personalized Treatment Planning: Enables targeted interventions and management strategies
• Family Planning Guidance: Provides crucial information for reproductive decisions
• Early Intervention: Facilitates timely therapeutic interventions for better outcomes
• Genetic Counseling: Offers comprehensive family risk assessment and counseling
• Research Contribution: Helps advance understanding of rare genetic disorders

Understanding Your Test Results

Our expert genetic counselors provide detailed interpretation of your results:

• Positive Result: Indicates the presence of pathogenic mutations in the KIF7 gene, confirming Acrocallosal Syndrome diagnosis
• Negative Result: Suggests no detectable mutations in the KIF7 gene, though clinical correlation is essential
• Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
• Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms

All results are accompanied by comprehensive genetic counseling to ensure proper understanding and next steps.

Test Pricing Information

Nationwide Testing Availability

We have conveniently located branches across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.

Book Your Genetic Test Today

Take the first step toward accurate diagnosis and personalized care. Our experienced genetic specialists are ready to guide you through the testing process and provide comprehensive support. Contact us today to schedule your appointment and begin your journey toward better health understanding.

Call or WhatsApp: +1(267) 388-9828 to book your KIF7 Gene Acrocallosal Syndrome NGS Genetic DNA Test and receive expert genetic counseling.