Genetic testing of the widest range, which …
detects mutations in all known genes responsible for monogenic diseases (clinical exom)
reduces the risk of affecting offspring with monogenic disease
identifies partners, who carry a mutation in the same gene
is performed from a peripheral blood sample
What is PANDA Exom?
PANDA Exom is a genetic test that detects mutations in all known genes responsible for monogenic diseases (clinical exom). It is the examination of the widest extent that could possibly be offered to a couple for testing hidden (recessive) mutations and at the same time, it reduces the risk of monogenic disease in the offspring the most. The output of the examination is very similar to the PANDA Carrier test. It is a comparison of mutated genes in both partners (genetic matching) and identification of pairs, where both partners carry the mutation in the same gene.
In such a case, when there is a risk of disease in the offspring, Preimplantation genetic testing of a monogenic disease (PGT-M) could be offered as an option.
What does PANDA Exom examine?
PANDA Exom examines all the clinically relevant genes by efficient exon capture method (Twist Human Core Exome Kit). Bioinformatic analysis is performed through platform Varsome Clinical.