The Pediatric Genetic Diseases service evaluates congenital or inherited genetic differences, coordinates diagnostic testing, and supports families through counseling and referrals. This page provides general information and helps identify when specialist care or further assessment may be appropriate.
Pediatric genetics assesses conditions rooted in chromosomal changes, single-gene disorders, inborn errors of metabolism, congenital malformations and developmental delays. Care is often multidisciplinary, involving pediatrics, pediatric neurology, metabolic disease teams and genetic counseling to form a coordinated plan.
Consider a genetics referral for structural birth differences, unexplained delays in growth or development, a family history of similar findings, known genetic diagnoses in relatives, recurrent pregnancy loss, or abnormal prenatal screening results. A specialist and genetic counselor can help determine appropriate next steps.
Evaluation usually begins with a detailed family history and physical exam, supplemented as needed by imaging or laboratory tests. Genetic testing options range from karyotype and chromosomal microarray to targeted gene panels and broader molecular tests such as exome sequencing. Test selection balances potential benefits, limitations and how results will be interpreted; pre- and post-test genetic counseling is important.
Receiving or pursuing a genetic evaluation can have medical and emotional implications. Genetic counseling explains inheritance patterns, what results mean for family members and options for follow-up testing or referrals to therapy, early intervention and social support services. If a child shows urgent signs such as severe breathing difficulty, loss of consciousness, prolonged or frequent seizures, or major trauma, seek emergency care immediately.
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