genetic syndromes

How are Genetic Syndromes Diagnosed?

Diagnosis of genetic syndromes in neonates typically involves a combination of clinical evaluation and genetic testing. Common diagnostic techniques include:
Karyotyping - to identify chromosomal abnormalities
Fluorescence In Situ Hybridization (FISH) - for specific genetic markers
Microarray Analysis - to detect smaller genetic changes
Whole Exome Sequencing - for comprehensive analysis

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