Genetic screening for children is a process that involves testing a child’s DNA to identify potential genetic disorders or conditions. It can provide valuable information about a child’s risk for certain diseases or conditions, allowing for early intervention and management. Genetic screening can identify a wide range of genetic disorders, including cystic fibrosis, sickle cell disease, Tay-Sachs disease, Down syndrome, and muscular dystrophy, amongst others.
Genetic Testing Options
At King’s, our Paediatric Department is highly experienced in diagnosing, screening and counselling for genetic diseases. We offer several options for genetic testing.
Carrier screening is performed on parents to determine if you carry specific genetic mutations that may be passed on to your children. Once the results are back, our Paediatricians and Genetic Counsellors will help you understand implications of the results and potential risks for future children and family members.
Newborn screening is conducted shortly after birth to identify certain genetic conditions that may require immediate medical attention. Early identification of these conditions enables us to develop targeted healthcare plans and interventions.
Diagnostic testing is conducted when a child shows symptoms of a genetic disorder, in order to confirm the diagnosis. The specific conditions tested for may vary depending on factors such as family history, ethnic background, and regional guidelines.
Whole Genome Sequencing is the study of the entire genome; this may be carried out pro-actively to identify predisposition to diseases, which could be mitigated through early intervention and lifestyle modifications, or it can be ordered by your Paediatrician if he/ she suspects certain conditions
How is the sample collected
Genetic screening typically involves collecting a sample of the child’s DNA, which can be obtained through a blood sample, cheek swab, or saliva. The DNA is then analyzed in a laboratory to identify genetic variations or mutations associated with particular conditions. Once results are received, we offer genetic counseling to help parents understand the results and make informed decisions based on the findings.
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If you have questions or want to schedule an appointment with our specialists, please contact us through our Call Centre or fill out the Enquiry Form below.
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