Purpose To present results from a large cohort of individuals receiving expanded carrier
screening (CS) in the United States. Methods Single-gene disorder carrier status for 381,014 …

Genome-wide sequencing (GWS) is a standard of care for diagnosis of suspected genetic
disorders, but the proportion of patients found to have pathogenic or likely pathogenic …

HEXA disorders are best considered as a disease continuum based on the amount of
residual beta-hexosaminidase A (HEX A) enzyme activity. This, in turn, depends on the …

Expanded carrier screening (ECS) for recessive monogenic diseases requires prior
knowledge of genomic variation, including DNA variants that cause disease. The …

Background Tay-Sachs disease (TSD) is a rare autosomalrecessive genetic disorder
characterized by progressive destruction of nerve cells in the brain and spinal cord. It is …

Abstract Trait Selective Abortions (TSA) have come under critique as a medical practice that
presents potential disabled infants as burdens and lacking the potential for meaningful lives …

Abstract Background Tay-Sachs disease (TSD), an autosomal recessively inherited
neurodegenerative lysosomal storage disease, reported worldwide with a high incidence …

GM2 gangliosidosis is a hereditary lysosomal storage disorder resulting from mutations in
the Hexosaminidase A (HEXA) gene, which leads to a deficiency in the activity of the β …

Carrier screening assesses biological parents for variants that cause serious inherited
disease in their offspring. Carrier screening began with recommendations to screen single …

The route to a definitive diagnosis is based upon the clinical presentation and genetic and
bio chemical laboratory tests on blood and urine. The definitive diagnosis of lysosomal …