advanced genetic sequencing

What Types of Neonatal Disorders Can Be Diagnosed Using Genetic Sequencing?

A wide range of neonatal disorders can be diagnosed through genetic sequencing, including but not limited to:
- Metabolic Disorders: Conditions like phenylketonuria (PKU) and maple syrup urine disease (MSUD).
- Neurological Disorders: Such as spinal muscular atrophy (SMA) and various forms of epilepsy.
- Cardiovascular Disorders: Including congenital heart defects.
- Genetic Syndromes: Such as Down syndrome, Turner syndrome, and other chromosomal abnormalities.

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