Jul 28, 2021 | Genetic Analysis, Knowledge Hub
Newborn screening is a process where infants are screened for specific conditions shortly after birth. These conditions may not always be clinically evident in the newborn period. Newborn screening entails different kinds of tests including hearing tests, cardiology...Jul 28, 2021 | Genetic Analysis, Knowledge Hub
Newborn screening (NBS) is a form of preventative health care and entails the process of screening infants for specific genetic conditions in the first few days of their life. PathCare has joined hands with the Newborn Screening Laboratory of North-West University...Jul 22, 2021 | Genetic Analysis, Knowledge Hub
Chromosomal aneuploidies (abnormal number of chromosomes) are the most common of first trimester miscarriage, accounting for more than 50% of spontaneous abortions. Aneuploidies observes in products of conception (POCs) involve almost every chromosome, with trisomies...Jun 30, 2021 | Genetic Analysis, Knowledge Hub
Genetics is an evolving field, and even though technology has improved in order to identify more disease-causing genetic variants, current laboratory testing strategies still have significant limitations. Some tests target genetic variants that have been shown to be...Jul 31, 2020 | Genetic Analysis
Cytogenomics is used as a general term that encompasses conventional karyotyping, as well as molecular cytogenetics (fluorescence in situ hybridization-FISH), microarrays and molecular-based techniques. With advancing technologies and consequent shift towards an...Jan 10, 2020 | Genetic Analysis, Oncology
Lynch syndrome (LS) is the most common cause of hereditary colorectal cancer (CRC), resulting from a germline pathogenic variant in one of the DNA mismatch repair (MMR) genes. The MMR genes associated with LS include MSH2, MLH1, MSH6 and PMS2. The role of the MMR...