Clinical Exome Sequencing (CES)

Clinical Exome Sequencing (CES) is ideal for patients with genetically complex or unclear clinical presentations. CES targets approximately 6,700 genes known to be associated with Mendelian disorders, including autosomal dominant, autosomal recessive, and X-linked conditions.

Clinical Exome Sequencing (CES) is ideal for patients with genetically complex or unclear clinical presentations. CES targets approximately 6,700 genes known to be associated with Mendelian disorders, including autosomal dominant, autosomal recessive, and X-linked conditions.

What It Detects:

• Single-nucleotide variants (SNVs)
• Small insertions and deletions (indels)
• Copy number variations (CNVs)
• Structural variants

Applications:

• Diagnosis of genetically heterogeneous disorders
• Evaluation of patients with atypical symptoms
• Clarification of undiagnosed or multisystem conditions
• Risk assessment and personalized treatment strategies

Panel Content:

• Curated gene set documented in the Online Mendelian Inheritance in Man (OMIM) database

Test Methodology:

• NGS with advanced bioinformatic analysis
• Confirmatory tests may include: Sanger sequencing, MLPA, qPCR, RP-PCR, and other methods

Coverage:

• Over 96% of targeted exonic regions covered at a minimum depth of 20X
• Focused on high-confidence, clinically relevant gene regions
• Some limitations in regions with high GC content, repetitive sequences, or pseudogenes

Specimen Requirements:

• Dried Blood Spot (DBS) card: 1 full card
• EDTA blood: Minimum 1 mL
• Ready-to-use DNA: Minimum 1 µg of high-quality genomic DNA
• Buccal swab: 1 swab collected with a validated collection kit
• Saliva: 1 sample collected with a validated saliva collection kit

Turnaround Time: Approximately 2–3 weeks