FAM20C Gene Raine Syndrome NGS Genetic DNA Test

Comprehensive Genetic Analysis for Raine Syndrome

The FAM20C Gene Raine Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic tool designed to identify mutations in the FAM20C gene, which are responsible for Raine Syndrome – a rare autosomal recessive disorder characterized by distinctive skeletal abnormalities, facial dysmorphism, and skin manifestations. This advanced genetic testing utilizes next-generation sequencing technology to provide comprehensive analysis of the FAM20C gene, enabling precise diagnosis and informed clinical management.

What Does This Test Measure and Detect?

This specialized genetic test specifically targets the FAM20C gene, which encodes a Golgi-enriched kinase that plays a crucial role in biomineralization processes. The test detects:

• Pathogenic variants and mutations in the FAM20C gene
• Single nucleotide polymorphisms associated with Raine Syndrome
• Insertions, deletions, and copy number variations
• Compound heterozygous mutations causing autosomal recessive inheritance

Who Should Consider This Test?

This genetic test is recommended for individuals presenting with clinical features suggestive of Raine Syndrome, including:

• Newborns or infants with generalized osteosclerosis
• Patients with characteristic facial features including microcephaly, exophthalmos, and depressed nasal bridge
• Individuals with skin abnormalities such as ichthyosis or hyperkeratosis
• Patients with dental anomalies and enamel defects
• Those with family history of Raine Syndrome or consanguineous parents
• Individuals with unexplained developmental delays and growth retardation

Clinical Benefits of FAM20C Genetic Testing

Undergoing this comprehensive genetic analysis provides numerous clinical advantages:

• Accurate Diagnosis: Confirms or rules out Raine Syndrome with high precision
• Personalized Treatment Planning: Enables targeted management strategies based on genetic findings
• Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
• Early Intervention: Facilitates timely medical interventions for better outcomes
• Differential Diagnosis: Helps distinguish Raine Syndrome from other osteosclerotic bone disorders

Understanding Your Test Results

Your genetic test results will be carefully interpreted by our expert geneticists and clinicians:

• Positive Result: Indicates the presence of pathogenic mutations in the FAM20C gene, confirming Raine Syndrome diagnosis
• Negative Result: Suggests that no disease-causing variants were detected in the FAM20C gene
• Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation
• Carrier Status: Detects individuals who carry one copy of the mutated gene but typically don’t show symptoms

All results include comprehensive interpretation and recommendations for clinical management from our specialized genetic counseling team.

Test Details and Pricing

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, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of your location.

Take the Next Step Toward Genetic Clarity

Don’t let uncertainty about genetic conditions affect your health decisions. Our FAM20C Gene Raine Syndrome NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. Our experienced genetic counselors are available to discuss your testing options and help you understand the process.

Ready to schedule your genetic testing? Contact us today at +1(267) 388-9828 or book your appointment online. Take control of your genetic health with comprehensive, reliable testing from America’s trusted genetic diagnostics provider.