genetic disorder

How are Genetic Disorders Diagnosed in Neonates?

Genetic testing plays a crucial role in diagnosing genetic disorders in neonates. Common diagnostic methods include:
Newborn Screening: Routine tests performed shortly after birth to identify genetic disorders early. This can help in the early intervention and management of conditions like Phenylketonuria and Congenital Hypothyroidism.
Chromosomal Analysis: Techniques such as karyotyping and Fluorescence In Situ Hybridization (FISH) to detect chromosomal abnormalities.
Molecular Genetic Testing: Tests like Polymerase Chain Reaction (PCR) to identify specific gene mutations.

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