Rare/Pediatric Disorders

Our pediatric genetic testing services are dedicated to the early and accurate diagnosis of genetic disorders in children, leveraging advanced technologies such as Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), Clinical Exome Sequencing (CES), chromosomal microarray analysis, direct mutation analysis, and gene sequencing.

These tools allow us to pinpoint genetic causes of both common and rare pediatric conditions, facilitating timely and personalized treatment plans.

Selecting the appropriate genetic test is crucial and depends on several factors, including the child’s clinical presentation, family history, and the suspected genetic disorder's characteristics. Targeted tests, such as direct mutation analysis or gene-specific sequencing, are often employed when a specific genetic condition is suspected based on clinical signs or family history. For broader or more complex cases where the diagnosis is uncertain, WES or WGS may be recommended to capture a wider range of potential genetic variants.

Our experienced clinical team, specialized in pediatric genetics, ensures that each child receives an accurate diagnosis, leading to effective, personalized treatment strategies. With the aim of improving the outcomes and quality of life for young patients.

"Genetic information offers an unlimited source of knowledge about human health and development; yet interpreting and applying this information places a huge responsibility on the scientific community."

James Watson