Clinical Exome Sequencing (CES) -TRIO

Clinical Exome Sequencing (CES) – TRIO

Clinical Exome Sequencing (CES) – TRIO is an advanced genetic test that analyzes the protein-coding regions (exons) of thousands of genes in the patient and both biological parents (Trio analysis). Comparing the DNA of all three individuals significantly improves the accuracy of identifying disease-causing genetic variants and helps diagnose inherited and rare genetic disorders.

Test Overview

• Sample Type: Peripheral Blood (Patient + Biological Mother + Biological Father)
• Test Method: Next-Generation Sequencing (NGS)
• Analysis: Clinical Exome Sequencing with Trio-Based Variant Interpretation
• Reporting Time: Approximately 4–8 weeks (may vary)

Why is CES – TRIO Recommended?

• Suspected rare genetic disorders
• Developmental delay or intellectual disability
• Autism spectrum disorders
• Multiple congenital anomalies
• Unexplained neurological disorders
• Inherited metabolic diseases
• Epilepsy of unknown cause
• Skeletal or muscular disorders
• Cases where previous genetic tests were inconclusive

Key Benefits

• Higher diagnostic accuracy through trio comparison
• Identifies inherited and de novo (new) genetic variants
• Reduces uncertain genetic findings
• Supports early diagnosis and treatment planning
• Assists in prognosis and clinical management
• Provides valuable information for family planning and genetic counseling

Who Should Consider This Test?

• Children with unexplained developmental or neurological conditions
• Individuals with suspected inherited diseases
• Families with recurrent genetic disorders
• Patients with complex or undiagnosed medical conditions
• Cases referred by geneticists or specialist physicians

Preparation

• No fasting is required.
• Genetic counseling is recommended before and after testing.
• Samples from the patient and both biological parents are required.

Interpretation

A clinical geneticist interprets the identified variants along with the patient's clinical history and family information to provide a comprehensive diagnostic report.

Disclaimer

A negative result does not completely exclude the possibility of a genetic disorder. Results should always be interpreted by a qualified healthcare professional in conjunction with clinical findings.