Genome sequencing – Whole-genome sequencing (WGS)
Genome sequencing – Whole-genome sequencing (WGS) Genomics is a branch of genetics that studies the DNA in its entirety: the genome of living organisms. The name derives from the term “genome”, meaning an organism’s entire set of DNA instructions and genetic information. It is a relatively new field in biology. Genome research began in the […]
FDA approves new gene carrier test for ten diseases
FDA approves new gene carrier test for ten diseases Many diseases are hereditary, and those with a family medical history of genetic diseases are at high risk for these conditions. Different genetic tests can help determine the likelihood of genetic disorders based on ethnic descent, such as prenatal testing undergone by couples before pregnancy. But […]
SKY test – Spectral Karyotyping
Spectral karyotyping (also known as SKY) is a technique that allows “coloring” the chromosomes using special dyes to make it easier to identify the chromosome pairs. SKY tests allow a more efficient and precise identification of the chromosomes than regular karyotyping, which improves the chances of identifying translocations and chromosome abnormalities. What is a SKY […]
Genetic testing for spondyloepiphyseal dysplasia (SED)
SED (spondyloepiphyseal dysplasia) is a group of genetic disorders affecting the vertebrae and the ends of the long bones. There are several types of SED, in different severity levels – some are very severe and some are relatively mild. The main characteristics of all SED disorders are: Flattened vertebrae / vertebrae abnormalities Delay in the […]
Exome sequencing – Whole Exome Sequencing (WES) testing
About DNA structure To understand the meaning of exome sequencing, a few words must be said about the basic structure of our DNA. DNA is a giant molecule that consists of more than 3 billion base-units, called nucleotides. There are four types of nucleotides, these are responsible for coding all the information necessary for creating […]
PCR test – Polymerase Chain Reaction
Polymerase Chain Reaction, better known as PCR, is a test that identifies specific genetic fragments for the diagnosis of genetic disorders. PCR tests are considered effective and fast. These accurate tests use genetic sequencing to diagnose genetic disorders. PCR testing has other uses aside from genetic testing, such as identifying certain infectious diseases. In genetic […]
