NIN Gene Seckel Syndrome Type 7 NGS Genetic DNA Test

Comprehensive Genetic Testing for Microcephalic Primordial Dwarfism

The NIN Gene Seckel Syndrome Type 7 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the NIN (Ninein) gene, which are responsible for Seckel syndrome type 7. This rare autosomal recessive disorder falls under the category of microcephalic primordial dwarfism, characterized by severe prenatal and postnatal growth retardation, microcephaly, and distinctive facial features. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting genetic variations that contribute to this complex developmental condition.

What Does This Test Measure and Detect?

This comprehensive genetic analysis specifically targets the NIN gene located on chromosome 14q22.1, which encodes the centrosomal protein ninein. The test utilizes state-of-the-art NGS technology to identify:

• Point mutations, insertions, and deletions in the NIN gene
• Compound heterozygous mutations associated with autosomal recessive inheritance
• Pathogenic variants affecting centrosomal function and cell division
• Genetic markers linked to impaired mitotic spindle organization
• Variants affecting neuronal development and brain growth

Who Should Consider This Genetic Test?

This specialized genetic test is recommended for individuals presenting with clinical features suggestive of Seckel syndrome type 7, including:

• Severe intrauterine growth restriction and postnatal growth failure
• Proportionate microcephaly with head circumference below the 3rd percentile
• Characteristic “bird-like” facial features with receding forehead and prominent nose
• Intellectual disability ranging from mild to severe
• Dental abnormalities including enamel hypoplasia and microdontia
• Skeletal anomalies such as clinodactyly and hip dysplasia
• Family history of consanguinity or similar developmental disorders
• Unexplained developmental delay in infancy and early childhood

Clinical Benefits of Genetic Testing

Undergoing the NIN Gene Seckel Syndrome Type 7 NGS Genetic DNA Test provides numerous clinical advantages:

• Accurate Diagnosis: Confirms or rules out Seckel syndrome type 7 with high precision
• Personalized Management: Enables tailored medical care and developmental interventions
• Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
• Early Intervention: Facilitates timely implementation of growth monitoring and developmental support
• Differential Diagnosis: Helps distinguish Seckel syndrome from other microcephalic dwarfism conditions
• Research Contribution: Contributes to ongoing scientific understanding of centrosomal disorders

Understanding Your Test Results

Our comprehensive genetic report provides detailed interpretation of your results with clinical context:

• Positive Result: Identification of pathogenic mutations in both NIN gene copies confirms Seckel syndrome type 7 diagnosis
• Negative Result: No pathogenic variants detected, suggesting alternative diagnoses should be considered
• Variant of Uncertain Significance: Genetic changes with unclear clinical implications requiring further evaluation
• Carrier Status: Identification of single mutation carriers with implications for family members

All results are accompanied by detailed clinical correlation and recommendations for follow-up care. Our genetic counseling team provides comprehensive support to help you understand your results and their implications for medical management.

Test Information and Pricing

Nationwide Testing Availability

We provide comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection centers ensures accessible testing for patients nationwide.

Pre-Test Requirements

Before scheduling your NIN Gene Seckel Syndrome Type 7 NGS Genetic DNA Test, please ensure:

• Complete clinical history documentation of the patient
• Genetic counseling session to create a detailed pedigree chart
• Documentation of family members affected with similar conditions
• Review of previous genetic testing and medical evaluations

Take the Next Step Toward Genetic Clarity

Don’t let uncertainty about genetic conditions affect your family’s future. Our specialized NIN Gene Seckel Syndrome Type 7 NGS Genetic DNA Test provides the definitive answers you need for informed medical decisions and comprehensive care planning.

Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your genetic health journey.

Our team of genetic specialists is ready to guide you through the testing process, answer your questions, and provide the support you need during this important diagnostic journey. Book your appointment now and receive the comprehensive genetic insights necessary for optimal medical management and family planning.