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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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