Sample Collection: Blood, saliva, or tissue samples are collected from the neonate. DNA Extraction: DNA is extracted from the collected sample. Amplification and Sequencing: Specific regions of the DNA are amplified using PCR and then sequenced using technologies like NGS. Data Analysis: The sequenced data is analyzed to identify genetic mutations or abnormalities. Interpretation: Geneticists interpret the findings in the context of the neonate's clinical symptoms.
