Our department consists of geneticists and genetic counselors. We provide diagnoses and counseling for children and families with chromosomal disorders, genetic syndromes and hereditary disorders. Advanced diagnostic technologies are applied for disorders from unknown etiologies. Patients receive clinical evaluation and genetic counselling, including the discussion, organization, and interpretation of genetic tests for various inherited conditions.
Known or suspected genetic disorders.
Chromosome abnormalities (Trisomy 21, Turner, Klinefelter, etc.)
Various Birth defects (single or multiple), multiple anomaly syndromes
Neurological concerns such as epilepsy, movement disorders, or brain anomalies or developmental delay of unknown cause.
Muscular dystrophies and myopathies
Inborn errors of metabolism
Intellectual disability, autism spectrum disorder, or other behavioral concerns
Cardiac concerns such as congenital cardiac anomalies, cardiomyopathy or dysrhythmias
Ocular disorders, retinopathy etc.
Suspected or diagnosed connective tissue disorders (Marfan syndrome, Ehlers Danlos syndrome, etc.)
Hematological disorders, Immune disorders
Phacomatosis (NF1, tuberous sclerosis etc. )
Couples who have a previous child or other family member with a genetic condition or birth defect and who want to learn more about their risks to have an affected child.