INDICATIONS FOR A GENETIC REFERRAL
Referrals to genetic specialists should be considered if a healthcare provider suspects a patient is at risk for or affected with a genetic disorder. Genetic specialists can help identify the appropriate tests to order, consider the family history, and provide information about the treatment and long-term outcomes for patients diagnosed with a genetic disorder.
In general, a consultation with a genetic specialist should be considered if a hereditary condition is suspected. Kinship marriages
• The presence of a person with mental retardation in family or close relatives
• Any congenital defects
• Presence of metabolic diseases in the family (such as PKU and…)
• Existence of dysmorphism (abnormal appearance)
• Ambiguity in the reproductive structure and puberty disorders
• Infertility, recurrent miscarriage and stillbirth
• Neuromuscular diseases and chronic and progressive disorders
• Deafness and hearing loss
• Growth and dwarfism
• Cancer, heart disease and
• Contact with teratogenic agents during pregnancy such as radiation, drugs, chemicals and infectious agents
• Abnormal results on ultrasound or prenatal screening
• Recognize, demand and feel the need for counseling