METHOD OF SCREENING NEWBORNS FOR GENE VARIANTS

摘要

Disclosed are methods, systems, and kits for screening a newborn infant for one or more gene variants comprising, obtaining a genomic DNA containing sample from the newborn infant; sequencing at least one target region of each of two or more genes selected from the group consisting of PCCA, PCCB, MUT, MMAA, MMAB, MMADHC, MCEE, IVD, ACAT1, ACADM, ACADVL, HADHA, ASL, BCKDHA, BCKDHB, DBT, DLD, CYP21A2, GALT, and ACAD8 in the genomic DNA; and screening for a gene variant from the sequenced target regions of each gene to identify gene variants present in the genomic DNA, wherein the sequencing does not include whole genome sequencing or whole exome sequencing.

主权项

1. A method for early detection in newborn infants of one or more gene variants associated with an asymptomatic disease, comprising:
obtaining a genomic DNA containing sample from the newborn infant to generate a genomic library, wherein each fragmented genomic DNA from the genomic library comprises an adaptor, wherein the sample is from a newborn infant between 0 and 72 hours after birth, and wherein the infant is asymptomatic for a disease or disorder; performing a plurality of DNA sequencing reactions on the genomic library to determine the DNA sequence of at least one target region of each of gene PCCA, PCCB, MUT, MMAA, MMAB, MMADHC, MCEE, IVD, ACAT1, ACADM, ACADVL, HADHA, ASL, BCKDHA, BCKDHB, DBT, DLD, CYP21A2, GALT, and ACAD8 in the genomic DNA; and screening for a gene variant from the sequenced target regions of each gene to identify gene variants present in the genomic DNA, wherein the sequencing does not include whole genome sequencing or whole exome sequencing.