Are you missing the need of genetic testing: A major determinant for you and your family health

Genetics is often a poorly understood concept. We need to understand this concept because genetic disorders often run in families and can have impact on you and your family. So, you need to be aware of the same. Genetic test is required based on the individual disease. The results have health implications not only for the patient but for the entire family. If the family member has the same genetic variant, then there are various ways in which we can think of preventing the disease in the unaffected person. But before genetic testing, we need to understand who needs genetic testing and when you should consult a genetic specialist. We have a list of conditions when you need genetic counseling and testing:

ü One or more members in the family has mental retardation, developmental disability, an inherited disorder, or a birth defect.

ü One or more members with early deaths due to known or unknown medical conditions.

ü One or more members with adult-onset health conditions such as cardiovascular disease, dementia, or cancer, particularly if onset is early in adulthood

ü Women who have experienced multiple pregnancy losses or babies who died in infancy

ü People concerned that their jobs, lifestyles, or medical history may pose a risk to the outcome of a pregnancy.Common causes of concern include exposure to radiation, medications, illegal drugs, chemicals, or infections

ü Couples who are first cousins or other close blood relatives

ü Pregnant women whose ultrasound examinations or blood testing indicate that their pregnancy may be at increased risk for certain complications or birth defects

ü Unexplained short stature in the family

ü Any history of neuromuscular weakness, tightness in limbs, looseness of body, seizures.

ü Skin disorder like albinism, epidermolysis bullosa, ichthyosis

ü Any history of lethargy, refusal to feed, recurrent vomiting in the child unexplained after routine work up

ü Any history of loss of milestones in the child

ü Any child with autism, developmental delay

Apart from that there are many more conditions which need evaluation by a geneticist. So, if you or any of your family member have any of the above mentioned condition, please feel free to write to us on our email: monibhatia@primegenetics.in and visit our website: www.primegenetics.in