Whole Genome Sequencing (WGS)

Whole Genome Sequencing provides the most comprehensive genetic analysis by examining over 97% of the genome.

WGS can detect:

• Single nucleotide variants (SNVs)
• Insertions and deletions (Indels)
• Structural variants
• Copy number variations (CNVs)
• Repeat expansions
• Mitochondrial variants

Best suited for complex or undiagnosed genetic conditions requiring the broadest level of analysis.

Whole Exome Sequencing (WES)

Whole Exome Sequencing focuses on the protein-coding regions of genes, covering approximately 1.5% of the genome where most disease-causing mutations are found.

Benefits include:

• High diagnostic accuracy
• Cost-effective alternative to WGS
• Identification of disease-causing genetic variants

Targeted Gene Sequencing

Targeted sequencing analyzes specific genes associated with a suspected condition.

Ideal for:

• Confirming known genetic disorders
• Testing disease-specific gene panels
• Faster and focused genetic analysis

Chromosomal Microarray Analysis (CMA)

Chromosomal Microarray Analysis identifies chromosomal abnormalities and copy number changes associated with genetic disorders.

CMA is commonly used to investigate:

• Developmental delays
• Intellectual disabilities
• Congenital abnormalities
• Certain genetic syndromes