CENPJ Gene Seckel Syndrome Type 4 NGS Genetic DNA Test

Comprehensive Genetic Testing for Seckel Syndrome Type 4

The CENPJ Gene Seckel Syndrome Type 4 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare developmental disorders. This advanced next-generation sequencing test specifically targets mutations in the CENPJ (Centromere Protein J) gene, which plays a critical role in centrosome function and proper cell division. Seckel Syndrome Type 4 is an autosomal recessive disorder characterized by severe growth retardation, microcephaly, and distinctive facial features. Early and accurate diagnosis through this test enables timely intervention and appropriate medical management.

What Does the Test Detect?

This sophisticated genetic analysis identifies pathogenic variants in the CENPJ gene using cutting-edge NGS technology. The test specifically detects:

• Point mutations, insertions, and deletions in the CENPJ gene
• Autosomal recessive inheritance patterns
• Genetic variations affecting centrosome function and cell cycle regulation
• Mutations responsible for impaired DNA damage response and repair mechanisms
• Genetic markers associated with intrauterine growth restriction and postnatal growth failure

Who Should Consider This Test?

Clinical Indications and Symptoms

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

• Severe microcephaly (head circumference below 3rd percentile)
• Significant prenatal and postnatal growth retardation
• Bird-like facial features including prominent nose and receding forehead
• Developmental delays and intellectual disability
• Intrauterine growth restriction without other identifiable causes
• Family history of Seckel syndrome or consanguineous parents
• Skeletal abnormalities including clinodactyly and hip dysplasia
• Ophthalmic abnormalities such as strabismus or nystagmus

Benefits of Genetic Testing

Undergoing the CENPJ Gene Seckel Syndrome Type 4 test provides numerous advantages:

• Accurate Diagnosis: Confirms or rules out Seckel Syndrome Type 4 with high precision
• Family Planning: Enables informed reproductive decisions and prenatal testing options
• Personalized Management: Guides appropriate medical interventions and developmental support
• Prognostic Information: Helps understand disease progression and potential complications
• Genetic Counseling: Provides basis for comprehensive family genetic counseling
• Research Contribution: Contributes to scientific understanding of rare genetic disorders

Understanding Your Test Results

Your genetic test results will be carefully interpreted by our board-certified genetic specialists:

• Positive Result: Identifies pathogenic mutations in both copies of the CENPJ gene, confirming Seckel Syndrome Type 4 diagnosis
• Carrier Status: Identifies individuals with one mutated copy who are asymptomatic carriers
• Negative Result: No pathogenic mutations detected, though clinical correlation remains essential
• Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation

All results include detailed interpretation and recommendations for follow-up care with genetic counseling services.

Test Pricing and Details

Nationwide Testing Availability

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. Our state-of-the-art laboratories ensure consistent, high-quality testing results regardless of location.

Take the Next Step Toward Genetic Clarity

If you or your child are experiencing symptoms suggestive of Seckel Syndrome Type 4, don’t delay in seeking genetic answers. Our comprehensive CENPJ gene testing provides the clarity needed for proper diagnosis and management. Contact our genetic counseling team today to discuss your testing options and schedule your appointment.

Book Your Test Today: Call or WhatsApp us at +1(267) 388-9828 to speak with our genetic specialists and schedule your CENPJ Gene Seckel Syndrome Type 4 NGS Genetic DNA Test. Early diagnosis can make a significant difference in management and quality of life.