Clinical Genetics Clinic

Individuals with personal history or family history of cancer who are suspected to have familial (hereditary) cancer predisposition syndromes.

Variable cardiovascular conditions can be caused by genetic defects such as cardiomyopathy, prolonged QT syndrome, and familial hyperlipidemias. 

Variable neurologic conditions can be caused by genetic defects such as hereditary neuropathies and muscular dystrophies.  

Hereditary hearing loss. 

Several genetic diseases can present with eye manifestations like retinitis pigmentosa and Stickler syndrome (high myopia). 

Large number of pediatric conditions are caused by genetic or chromosomal defects including: Developmental delay and intellectual disability.

• Autism and behavioral disorders.
• Down syndrome and other chromosomal disorders.
• Dysmorphic features and variable genetic syndromes.
• Birth defects and congenital malformation.
• Skeletal dysplasia (malformation).
• Growth failure: failure-to-thrive or short stature.
• Inborn error of metabolism (metabolic disorders) and mitochondrial disorders.
• Hearing impairment.
• Retinal diseases and high myopia. Cancers, immunodeficiency, bleeding tendencies, and hereditary anemias such as sickle cell and thalassemia.
• Abnormal newborn screening evaluation and follow up.

Pregnant ladies with fetal anomalies or abnormal prenatal screening. 

Genetic evaluation for couples with infertility and counseling regarding pre-implantation genetic testing.