Diagnosis of inherited disorders typically involves a combination of clinical evaluation, family history, and various genetic tests:
1. Prenatal Screening: Techniques like amniocentesis and chorionic villus sampling (CVS) can detect genetic abnormalities before birth. 2. Newborn Screening: Many countries have mandatory screening for certain genetic disorders shortly after birth, such as Phenylketonuria (PKU) and Congenital Hypothyroidism. 3. Genetic Testing: Advanced techniques like Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) can identify mutations in genes linked to inherited disorders. 4. Clinical Evaluation: Physical examination and assessment of symptoms by a pediatrician can also provide clues to the presence of a genetic disorder.
