Detection of genetic syndromes
Genetic diseases or syndromes are a heterogeneous group of conditions that have a clear genetic component in their origin. They can be classified as follows:
Chromosomal disorders
Caused by structural or numeric alterations to the chromosomes. The most well known is perhaps Down’s syndrome, which is caused by the presence of three copies (trisomy) of chromosome 21
Monogenic disorders
Caused by alterations to a single gene. These are the most common and heterogeneous. Some of the best known examples are cystic fibrosis and haemophilia
Multifactorial
Both genetic and environmental factors play a part. These disorders tend to be very common yet complex to manage, and include some congenital malformations or neural tube defects.
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