Paediatric genetic testing can be used to diagnose a hereditary condition in a child, to determine their chances of developing a hereditary condition, or to find out if they’re a carrier of a genetic mutation. If you already have a child with a genetic disorder, or you or your child’s other parent has or is a carrier of a genetic condition, speak to us to see if you should have your child tested.
Reasons for genetic consultation in the field of Paediatric Genetics
Pediatric medical genetics is health care that focuses on genetic conditions in children of all ages. Genes contain the biologic instructions for life. They contribute to our traits and aspects of our health. Everyone has a unique genetic code. It is this genetic variation that makes us an individual.
Genetic variation can be neutral, beneficial or detrimental and arises from a number of different mechanisms, including variants that occur in the formation of the reproductive cells. These variations can lead to diversity of a population, the emergence of new traits, which may improve function, health and survival or a disruption of normal function and increased susceptibility to disease.
A child randomly inherits half their genes from each of their parents, and most children grow up healthy. But our children can inherit an unfavorable combination of these variants or possess new mutations that result in the child having physical differences like birth defects, medical conditions, learning disabilities, behavior problems or features that other family members might also possess. We can help you learn if your child has a genetic condition, which may include genetic testing. If your child has a genetic diagnosis, we can give you medical recommendations to make informed decisions about your child’s wellness.
Genetic defects can be causative for 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, as well as congenital metabolic disorders or congenital neurological and muscular disorders. With the correct diagnosis, it is possible to start therapy or support for the child at an early stage. In addition, the concomitant diseases that often accompany a syndrome can be detected and treated. In addition to the points mentioned above, Paediatric Genetic consultation and diagnostics also include examining the blood of both parents (if available).
We offer genetic consultation, testing, and diagnostics in all cases of suspected genetic disorders.
Pediatric genetic diseases can affect children of all ages, from babies found to have a genetic diagnosis through newborn screening to young adults that show signs and symptoms for the first time.
Genetic evaluations, including pediatric genetic testing and genetic counseling, are available to individuals of all age ranges.
After the initial consultation with Dr Schell-Apacik. we may offer specialised genetic tests for your child. The goal is to determine if a genetic explanation for their health issues is present so that your child’s care can be tailored to their needs. Here are 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 anemia and thalassemia
- Muscular dystrophy, different inherited muscle diseases
- Phenylketonuria (PKU), an inherited disease of the metabolism
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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 also can 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 in 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 tests are needed and what the results may mean. If a condition might happen in other family members, this information is explained in plain language.
What to expect from a
pediatric genetic evaluation:
Dr Schell-Apacik will review your child’s health history and your family history. He will look at all this information for clues of a genetic disorder.
In a next step, Dr Schell-Apacik will review everything with you, including whether your child may have features of an underlying genetic diagnosis. If genetic testing is available, he will review that with you and help you with making an informed decision about whether this is right for your child. Our team will help coordinate genetic testing, including sorting out the logistics.
Once the test results are back, Dr Schell-Apacik will interpret and review them with you, and will make medical recommendations and partner with you and your child’s regular doctor for long-term care, including available treatment or referrals to other specialists.