Pediatric genetic testing focuses on the early and accurate diagnosis of genetic diseases in children, using 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 methods identify the genetic causes of common and rare pediatric diseases, helping to create timely and personalized treatment plans. The right test is chosen according to the child's clinical condition, family history and the characteristics of the suspected disease; in complex cases where the diagnosis is unclear, broader tests such as WES or WGS are recommended.

Our Tests

Clinical Exome Sequencing (CES)

Fast, cost-effective exome analysis targeting clinically relevant genes.

Whole Exome Sequencing (WES)+CNV

Mutation screening in about 20,000 genes; the protein-coding regions that contain 85% of known disease mutations.

Whole Genome Sequencing (WGS)

Analysis of the entire genome, including coding and non-coding regions.

Mitochondrial DNA Sequencing

mtDNA analysis in mitochondrial diseases such as LHON, MELAS, MERRF and Kearns-Sayre.

Chromosomal Microarray Analysis

High-resolution screening for submicroscopic CNVs missed by conventional karyotyping.

Mutation Analysis

Targeted mutation detection in known single-gene diseases (Sanger, NGS, MLPA).

Microdeletion/Duplication Syndromes

Diagnosis of syndromes such as DiGeorge, Williams and Prader-Willi/Angelman.

Gene Sequencing

Targeted gene analyses with Sanger and NGS; confirmation of specific mutations.

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