The PrequelNIPT® Risk 100 and PrequelNIPT® Risk 100 Advance tests

The PrequelNIPT® Risk 100 and PrequelNIPT® Risk 100 Advance tests, which combine the capabilities of PrequelNIPT® Karyo and PrequelNIPT® Karyo Advance with the genetic analysis provided by the Prequel 100 Gene Analysis test, allow for the identification of the probability that the fetus is affected by 100 severe inherited genetic disorders (such as cystic fibrosis, beta-thalassemia, etc.). A complete list of the 100 monogenic diseases and the mutations analyzed in the parents is available at the following link: https://bit.ly/VERAgeneMutations

The PrequelNIPT® MonoGene and PrequelNIPT® MonoGene Advance tests combine the capabilities of PrequelNIPT® Karyo and PrequelNIPT® Karyo Advance with the ability to analyze 16 inherited monogenic disorders and De Novo in the fetus.The 16 fetal monogenic disorders are: cystic fibrosis (CFTR gene), congenital deafness (GJB2 gene), beta-thalassemia (HBB gene), classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene), hemochromatosis (HFE gene), achondroplasia (FGFR3 gene), hypochondroplasia (FGFR3 gene), thanatophoric dysplasia (FGFR3 gene), Apert syndrome (FGFR2 gene), Crouzon syndrome (FGFR2 gene), Pfeiffer syndrome (FGFR2 gene), LEOPARD syndrome (PTPN11 gene), Noonan syndrome (PTPN11/SOS1/RAF1 genes), phenylketonuria (PAH gene), Rett syndrome (MECP2 gene), and autosomal recessive polycystic kidney disease (PKHD1 gene).

The PrequelNIPT® Total and PrequelNIPT® Total Advance tests combine the capabilities of PrequelNIPT® Karyo and PrequelNIPT® Karyo Advance with the ability to analyze 16 inherited monogenic disorders and De Novo in the fetus and to perform a carrier screening test on the mother.The 16 fetal monogenic disorders are: Cystic fibrosis (CFTR gene), congenital deafness (GJB2 gene), beta-thalassemia (HBB gene), classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene), hemochromatosis (HFE gene), achondroplasia (FGFR3 gene), hypochondroplasia (FGFR3 gene), thanatophoric dysplasia (FGFR3 gene), Apert syndrome (FGFR2 gene), Crouzon syndrome (FGFR2 gene), Pfeiffer syndrome (FGFR2 gene), LEOPARD syndrome (PTPN11 gene), Noonan syndrome (PTPN11/SOS1/RAF1 genes), phenylketonuria (PAH gene), Rett syndrome (MECP2 gene), and autosomal recessive polycystic kidney disease (PKHD1 gene).The disorders analyzed in the maternal sample are: Cystic fibrosis (CFTR gene), congenital deafness (GJB2 gene), spinal muscular atrophy (SMN1 gene), Duchenne muscular dystrophy (DMD gene), and Fragile X syndrome (FMR1 gene).

The PrequelNIPT® Total Family test combines the capabilities of PrequelNIPT® Karyo Advance with the ability to analyze 8 De Novo genetic disorders in the fetus and to perform carrier screening on both parents, involving the analysis of over 900 genes related to more than 1300 genetic disorders. The 8 de novo genetic disorders analyzed in the fetus are: Achondroplasia (FGFR3 gene), Hypochondroplasia (FGFR3 gene), Thanatophoric dysplasia (FGFR3 gene), Apert syndrome (FGFR2 gene), Crouzon syndrome (FGFR2 gene), Pfeiffer syndrome (FGFR2 gene), LEOPARD syndrome (PTPN11 gene), and Noonan syndrome (PTPN11/SOS1/RAF1 genes). A complete list of the 900+ genes and 1300+ monogenic diseases analyzed in the parents is available at the following link: https://drive.google.com/file/d/1k6Junw7hGL3Bk2mnci-hfJb9dBAy0w9m/view?usp=drive_link

This test represents the most comprehensive level of information currently available during pregnancy through non-invasive prenatal screening.