Description

GeneSafe screens for several clinically significant and life-altering genetic disorders through cfDNA analysis from maternal plasma. GeneSafe™ De Novo screens for 44 severe genetic disorders due to de novo mutations (a gene mutation that is not inherited) in 25 genes that cause skeletal dysplasia, congenital heart defects, multiple congenital malformation syndromes, neurodevelopmental disorders, such as autism, epilepsy, intellectual disability, and sporadic cases of various rare dominant Mendelian disorders, such as Schinzel-Giedion syndrome, and Bohring-Opitz syndrome. If the parents have the same mutation on the same gene (icluded in Genesafe Inherited), they can’t do Genesafe, because isn’t possible to know if the fetus is homozygous or heterozugous. If the parents have 2 different inherited mutations, we require the reports about parent’s condition. Consider that this case can cause a compound heterozugous fetus in 25 % of the cases, so there is the same probability to have to do also an invasive diagnosis. If the carrier condition is certain only for the mother, we require the buccal swab of the father. If the carrier condition is certain only for the father, we require only the related report.

External Information

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