ESCO2 Gene Roberts Syndrome NGS Genetic DNA Test

Comprehensive Genetic Analysis for Roberts Syndrome

The ESCO2 Gene Roberts Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the ESCO2 gene, which is responsible for Roberts syndrome. This rare autosomal recessive disorder affects multiple body systems and requires precise genetic confirmation for accurate diagnosis and management. Our advanced next-generation sequencing technology provides comprehensive analysis of the ESCO2 gene, delivering reliable results that empower healthcare providers and families with critical genetic information.

What This Test Measures and Detects

This specialized genetic test specifically targets the ESCO2 gene located on chromosome 8p21.1, which encodes the establishment of cohesion 1 homolog 2 protein. The test detects:

• Pathogenic variants and mutations in the ESCO2 gene
• Single nucleotide polymorphisms (SNPs) associated with Roberts syndrome
• Insertions, deletions, and other structural variations
• Compound heterozygous mutations in affected individuals
• Carrier status for autosomal recessive inheritance patterns

Who Should Consider This Test

This genetic test is recommended for individuals presenting with characteristic symptoms or risk factors for Roberts syndrome, including:

• Newborns or children with severe growth retardation and developmental delays
• Individuals exhibiting craniofacial abnormalities such as cleft lip/palate, micrognathia, or hypertelorism
• Patients with symmetric limb reduction defects, particularly phocomelia
• Those with family history of Roberts syndrome or consanguineous parents
• Couples planning pregnancy with known Roberts syndrome in family history
• Individuals with unexplained multiple congenital anomalies matching Roberts syndrome features

Clinical Benefits of Genetic Testing

Undergoing the ESCO2 Gene Roberts Syndrome NGS Genetic DNA Test provides numerous clinical advantages:

• Accurate Diagnosis: Confirms or rules out Roberts syndrome with high precision
• Family Planning Guidance: Enables informed reproductive decisions and genetic counseling
• Early Intervention: Facilitates timely medical management and supportive care
• Carrier Detection: Identifies asymptomatic carriers within families
• Prenatal Diagnosis: Supports pregnancy management decisions
• Differential Diagnosis: Helps distinguish Roberts syndrome from similar conditions

Understanding Your Test Results

Our comprehensive genetic report provides clear interpretation of your ESCO2 gene analysis:

• Positive Result: Indicates pathogenic mutations in both ESCO2 gene copies, confirming Roberts syndrome diagnosis
• Carrier Status: Shows mutation in one ESCO2 gene copy, indicating carrier status without disease manifestation
• Negative Result: No pathogenic mutations detected, significantly reducing Roberts syndrome likelihood
• Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation

All results include detailed explanations and recommendations for follow-up care with genetic specialists.

Test Pricing Information

Nationwide Testing Availability

We proudly serve patients across the United States with convenient testing locations 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 network of certified genetic testing facilities ensures accessible, reliable service regardless of your location.

Take the Next Step Toward Genetic Clarity

Don’t let uncertainty about genetic conditions affect your family’s health decisions. Our ESCO2 Gene Roberts Syndrome NGS Genetic DNA Test provides the answers you need with professional genetic counseling support. Contact us today to schedule your test and begin your journey toward genetic understanding and informed healthcare choices.

Call or WhatsApp us now at +1(267) 388-9828 to book your ESCO2 genetic test and receive expert genetic counseling guidance.