Genetic Testing

Introduction In the intricate tapestry of life, the fundamental blueprint is formed through the structure of genes.   Genes are the segments of DNA that hold the instructions for the development, functioning, and reproduction of organisms. To truly appreciate the complexity of life,…

Introduction Genetic counseling is the process of revealing important information related to genetic conditions to individuals and families. It contains valuable information about genetic predispositions or conditions.   By getting to know the likeability of genetic disorders and risks, individuals and families can…

Genotype consists of the specific alleles inherited from both parents, which make up a Genotype organism.  The visible difference or biochemical characteristics in an individual like the height, the color of their hair make a phenotype individual.   How To Describe The Difference…

Introduction Leber Hereditary Optic Neuropathy (LHON) is a rare mitochondrial disorder that primarily affects the optic nerves, leading to progressive vision loss.   Named after the German ophthalmologist Theodor Leber, who first described it in the 19th century, LHON typically manifests in young…

Introduction Hereditary Angioedema (HAE) is a rare genetic disorder that leads to recurrent episodes of severe swelling, or angioedema, in various parts of the body.   Unlike common allergic reactions, HAE does not respond to typical allergy medications, making it a particularly challenging…

Introduction Hereditary Spherocytosis (HS) is an inherited blood disorder characterized by the presence of spherocytes—abnormally shaped red blood cells (RBCs) that are sphere-shaped instead of the typical biconcave disc shape.   This condition leads to hemolytic anemia, where RBCs are prematurely destroyed, resulting…