Tag: antibodies test
Delineating the Complex Genomic Landscape
Delineating the Complex Genomic Landscape of Multiple Myeloma Using Next-Generation Sequencing (NGS): Progress and Potential to Supersede Traditional Genetic Testing Recent NGS studies in multiple myeloma identified in one step and with comparable high accuracy to the concurrent cytogenomic tests the characteristic IGH translocations and copy number abnormalities. In addition, NGS allowed detection of gene mutations. This […]
Implications of Genetic Testing in Dilated
Implications of Genetic Testing in Dilated Cardiomyopathy Background – Genetic analysis is a first-tier test in dilated cardiomyopathy (DCM). Electrical phenotypes are common in genetic DCM but their exact contribution to the clinical course and outcome is unknown. We determined the prevalence of pathogenic gene variants in a large unselected DCM population, and determined the role of electrical phenotypes […]
Primary prevention of sickle cell disease
Primary prevention of sickle cell disease using preimplantation genetic testing and in vitro fertilization is cost-effective For couples with sickle cell trait (SCT) who are at risk for having a child with sickle cell disease (SCD), cost is a barrier to using in vitro fertilization (IVF) with preimplantation genetic testing for monogenic diseases (PGT-M) and insurance coverage is […]