Expanded genetic testing of a couple, which …
detects hidden (recessive) gene mutations in couples
reduces the risk of the birth of an affected child with severe monogenic disease
examines several hundreds of clinically important genes
detects mutations using NGS method
is performed from the peripheral blood sample
What is PANDA Carrier?
PANDA Carrier is a genetic test designed to detect hidden (recessive) gene mutations in couples. The goal of such examination is to reduce the risk of birth of a child affected by a severe monogenic disease. It is known, that approximately 1–2 % of children in the Central European population are born with the monogenic disease. Although there is no genetic test that is able to completely eliminate this risk, it can reduce it about 10 times.
How does it work?
The examination involves both partners to undergo the PANDA Carrier test, which screens more than 100 clinically relevant genes. The test proceeds to compare mutated genes between both partners (genetic matching), identifying those, that carry mutations in the same gene. In such a case, there is a 25 % risk for offspring to inherit both mutated alleles and develop a monogenic disease.
What happens next, once PANDA detects a risk?
If we identify a mutation in the same gene in a couple, they can proceed with Preimplantation genetic testing of monogenic disease (PGT-M).
Currently, we test 110 genes responsible for clinically most relevant monogenic recessive diseases using the NGS method. The analysis is supplemented by detection of diagnostically troublesome and frequent mutations in genes SMN1, FMR1 and CYP21A2 and by copy number variations (CNV) analysis in genes ABCC6, CFTR, COL4A5, CTNS, CLN3, CYP21A2, DMD, FANCA, GAA, GALC, GJB2 (exon 2), HBA1/HBA2, MEFV, MTM1, MYO7A, OTC, PAH, SLC26A4, SMN1 (exon 7,8).
See a list of the 110 most common monogenic recessive diseases that we examine in our laboratory.