single gene disorders

How are Single Gene Disorders Diagnosed?

Diagnosis of single gene disorders typically involves genetic testing methods such as:
Newborn Screening: Many countries have mandatory newborn screening programs that test for certain genetic disorders shortly after birth.
Molecular Genetic Testing: Techniques like PCR, sequencing, and microarrays are used to identify specific gene mutations.
Family History Analysis: A detailed family history can help identify patterns of inheritance and suggest the need for further genetic testing.

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