The PrequelNIPT® MonoGene and PrequelNIPT® MonoGene Advance tests combine the capabilities of PrequelNIPT® Karyo and PrequelNIPT® Karyo Advance with the ability to analyze 103 inherited monogenic disorders and De Novo in the fetus. A complete list of the 103 monogenic diseases analyzed is available at the following link: https://drive.google.com/file/d/1irHrF2FcwEugScOfcye5DFMcQXsm79iK/view?usp=drive_link 

 

The PrequelNIPT® Total and PrequelNIPT® Total Advance tests combine the capabilities of PrequelNIPT® Karyo and PrequelNIPT® Karyo Advance with the ability to analyze 103 inherited monogenic disorders and De Novo in the fetus and to perform a carrier screening test on the mother. A complete list of the 103 monogenic diseases analyzed is available at the following link: https://drive.google.com/file/d/1irHrF2FcwEugScOfcye5DFMcQXsm79iK/view?usp=drive_link.

 

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 16 inherited monogenic disorders and De Novo 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 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). 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