Learn more about genetic testing for children and families
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It is not possible without the support of genetic experts, including genetic counselors and geneticists. When it comes to understanding how to diagnose a rare disease, genetic counseling and genetic testing, are essential services. We can not understand how to diagnose a rare disease without fully understanding the role and importance of genetic counseling. Genetic […]
Genetic diagnosis a definition Improving genetic diagnosis means ensuring rare disease patients receive a timely, and accurate diagnosis for a rare disease. Understanding the benefits of genetic diagnosis can further emphasize the need for improvements in this field. Learn more in our article on Genetic Diagnosis Benefits: What & Why? On average, rare disease patients […]
Genetic carrier screening is one of the most common genetic tests. It is often recommended to couples who are thinking about starting a family, and in some countries, it is often a part of standard preconception testing and preparation. Carrier screening aims to identify genetic changes in an individual, or pair of individuals, that might […]
It is a form of genetic testing which identifies duplicate or extra parts of chromosomes, or missing and deleted chromosomal parts. This includes chromosomal microdeletions and microduplications involving multiple genes, chromosomal conditions involving a chromosome number (Down syndrome is one of these), and translocations, where the chromosomal structure is unbalanced or rearranged. Chromosomal microarray has […]
Genetic carrier screening is a type of testing that can identify if an individual carries a gene mutation which might in turn cause specific genetic syndromes or rare diseases. It provides individuals with important information about their genetic health, and can also help them to understand the genetic health of their future children. Generally, it […]
Genetic testing and diagnosis is the process of identifying if an individual is at risk for, or has a rare disease. It can also identify if an individual is a carrier of a rare disease or genetic syndrome. There are many different types of testing options available, and finding the right test, based on an […]
Genetic screening in newborns is essential for identifying up to 50 genetic, metabolic, hormonal, and hemoglobin diseases that may have serious, potentially life-threatening consequences for a newborn in the first few weeks or months of their life, but which are not necessarily identifiable from their potential symptoms alone. Genetic screening in a newborn usually occurs […]
The FDNA genetic analysis platform is a proven solution for delivering more accurate and faster genetic diagnoses of rare diseases. It combines advanced AI facial screening technology, with extensive genetic clinical experience, as well as a database of thousands of genetic syndrome markers, plus an extensive and global network of genetic experts. It can walk […]
Genetic analysis has traditionally been an invasive procedure, requiring in-person consultations, to sequence DNA, which can then be used to assess an individual’s risk for developing certain genetic syndromes. It is not directly available to rare disease patients and their families. Genetic diagnosis for rare diseases is a multi-step process, involving several genetic analysis methods […]