Genetic tests for children can help figure out if they have, might get, or can pass on a genetic condition. If your family has a history of these conditions, or if your child or one of the parents is a carrier, you can talk to us to see if testing your child is a good idea.
Reasons for genetic consultation in the field of paediatric Genetics
Paediatric medical genetics deals with health issues in children that are linked to their genes. Genes are like a set of instructions inside our bodies that affect who we are and our health. Each person has their own special set of genes that makes them different from anyone else.
Genetic variation can be neutral, beneficial, or harmful, and it results from a variety of mechanisms, including variants that occur during the formation of reproductive cells. These variations can result in population diversity, the emergence of new traits that may improve function, health, and survival, or disrupt normal function and increase susceptibility to disease.
Most children grow up healthy.
Most children grow up healthy, with half of their genes coming from each parent at random. However, our children may inherit an unfavourable combination of these variations or have new mutations that result in them differing physically from other family members in ways like learning impairments, birth deformities, medical conditions, or behavioural problems. Through possible genetic testing, we can assist you in determining whether your child has a hereditary problem. We can provide you with medical advice to help you make decisions regarding your child’s well-being if they have been diagnosed with a genetic condition.
Genetic defects can be the cause of many diseases in childhood. These include abnormalities in a child’s appearance (phenotypic anomalies), developmental delay or mental retardation, autism, speech delays, congenital hearing and visual impairments, and congenital metabolic or neurological and muscular disorders. With the correct diagnosis, the child can begin therapy or receive support at an early stage. Furthermore, the associated diseases that frequently accompany a syndrome can be identified and treated. Apart from the previously mentioned aspects, paediatric genetic consultation and diagnostics encompass the analysis of both parents’ blood (if accessible).
For any suspected genetic disorders, we provide genetic testing, diagnostics, and consultation.
Children of various ages can be impacted by paediatric genetic diseases, ranging from newborns diagnosed with a genetic condition through newborn screening to young adults experiencing symptoms and signs for the first time.
Dr Chayim Schell-Apacik
Genetic evaluations, including paediatric genetic testing and genetic counselling, are available to individuals of all age ranges.
We might suggest specialised genetic testing for your child following the initial appointment with Dr. Schell-Apacik. The objective is to find out if there is a genetic basis for your child’s health problems so that their care can be individualised. Here are some common genetic disorders that children are tested for:
- Chromosome abnormalities, such as Down syndrome
- Fragile X syndrome, an inherited form of intellectual disability
- Cystic fibrosis, an inherited lung and digestive condition
- Inherited blood disorders, such as sickle-cell anaemia and thalassemia
- Muscular dystrophy and different inherited muscle diseases
- Phenylketonuria (PKU), an inherited disease of the metabolism
- Cornelia-de-Lange syndrome
- Rubinstein-Taybi Syndrome
- Autism Spectrum Disorder
Can we help you? Make an enquiry today.
What is paediatric genetics?
Fortunately, most children are born healthy with no medical problems or birth defects. However, some children are born with differences in body structure, brain development, or body chemistry that can lead to problems with health, development, school performance, and/or social interaction. In paediatric genetics, we aim to identify the causes and natural history of these disorders. We may suggest tests and treatments that can help in understanding and caring for your child’s condition. Paediatric genetics can also help families understand whether some conditions are hereditary (coming from the genes) and we may offer testing to family members who may be at risk for having children with similar problems.
Children are not just small adults. As paediatric geneticists, we have the training and experience to find the right diagnosis, along with expertise in dealing with children and treating children’s genetic conditions.
In paediatric genetics, we know how to deal with children and their families in ways that put them at ease. We understand that families have many questions about genetics. Families are given clear explanations and told how to find information about their child’s condition. If special tests are needed, we explain why they are needed and what the results may mean. If a condition might happen to other family members, this information is explained in plain language.
What to expect from a paediatric genetic evaluation:
Dr. Schell-Apacik will go over your family’s medical history as well as that of your child. He will examine all of this data to search for indications of a hereditary condition.
Dr. Schell-Apacik will go over everything with you in the following step, including the possibility that your child has symptoms of an underlying genetic diagnosis. He will discuss the options with you and assist you in determining whether genetic testing is the best course of action for your child, if it is available. Our team will help coordinate genetic testing, including sorting out the logistics.
Once the test results are back, Dr. Schell-Apacik will work with you and your child’s primary care physician to partner on long-term care, including treatment options and referrals to other specialists. He will also interpret and review the test results with you.
