Generally, your doctor will tell you whether you have, or are, at risk of having any genetic disease. Anyone with the following is likely to have a genetic disease, among other common observations.

• Unexpected growth and development
• Mental retardation
• Physical growth retardation or ambiguous genital development
• Muscle weakness
• Underdevelopment of sexual characters, etc.  

Girls above the age of 15 years having no menstruation, or boys above 14 years having no sexual development are likely to have an underlying genetic problem.

Couples with

• Infertility
• Repeated miscarriages, foetal losses or deaths of their children
• Marriage in blood relations (consanguinity)
• Children with mental retardation or development delay
• A family history of genetic disease

are at risk of having a genetic problem and need to consult a genetic counselor and medical geneticist at the earliest.