Cystic fibrosis (CF) is one of the most common life-limiting autosomal recessive conditions in South Africa. CF is increasingly being recognised in all of South Africa.
Ampath Genetics is excited to announce the introduction of products of conception (POCs) testing using next generation sequencing (NGS) technology. NGS allows analysis of all chromosomes (1-22, X and Y), resulting in significantly increased pick-up rates of chromosomal abnormalities when compared to conventional testing approaches.
NIPT is a safe and accurate prenatal screen to calculate the risk that a foetus has of being affected with a chromosomal condition, for example, Down Syndrome. NIPT makes use of cell-free DNA released from the placenta into the maternal bloodstream (Figure 1)
Breast cancer is the most common cancer among women worldwide, with approximately 1.7 million cases diagnosed annually. In South Africa, the incidence is 40 new cases per 100 000 persons per year. The incidence of breast cancer varies across the world between races and regions.
Chromosomal banding patterns, developed during the late 1960s and early 1970s, are used to elucidate the breakpoints and constituent chromosomes involved in chromosome translocations. Deletions and inversions within an individual chromosome can also be identified and described more precisely using standardised banding nomenclature.
The term paternity testing, parental testing and human identity testing are interchangeable. Paternity testing refers to the use of genetic fingerprinting to determine a biological parent-child relationship. A paternity test establishes proof as to whether a man is the biological father of an individual, and a maternity test establishes whether a woman is the biological mother of an individual.
BRCA1 and BRCA2 gene testing is anything but straightforward. This article attempts to discuss the salient points to consider when faced with testing requests.
