Genetic Disorders

A genetic disorder is a topic in Science that cannot be avoided. The fact is that genetic disorders can happen in humans, plants or animals, to date no form of life is documented as being safe from a genetic disorder. A genetic disorder can appear in the beginning stages of life or can appear much later in life when least expected. A fundamental principle of biology states that the behavior of chromosomes during the meiosis process can account for genetic inheritance patterns (quote). There are many reasons for genetic disorders; genetic disorders primarily caused by specific abnormalities observed in several genes. Categorized into four major types such as a single gene, multi‑factorial, chromosomal, and mitochondrial disorders. To date, there

Cytogenetics [si″to-jĕ-net´iks] involves techniques such as Karyotyping (G-Banding): A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell. The term also used for the complete set of chromosomes in a species or an individual organism (NIH).

Fluorescence in Situ Hybridization (FISH): Fluorescence in situ hybridization (FISH) provides researchers with a way to visualize and map the genetic material in an individual's cells, including specific genes or portions of genes. Additionally, used for understanding a variety of chromosomal abnormalities and other genetic mutations

A deoxyribonucleic acid (DNA) based test which allows for high-resolution scanning of the entire genome. Microarray provides information on thousands of genes in a single test. It can precisely define the missing or extra genes. CMA used as a diagnostic tool for individuals with unexplained DD, ASD and intellectual disability (ID), and, in the prenatal setting, primarily as an alternative to karyotyping. Prenatally, CMA requires an invasive procedure to collect intact fetal cells (for example, amniocentesis or chorionic villous samplingCMA is used as a diagnostic tool for individuals with unexplained DD, ASD and intellectual disability (ID), and, in the prenatal setting, primarily as an alternative to karyotyping. Prenatally, CMA requires an invasive procedure to collect intact fetal cell, e.g., amniocentesis or chorionic villous sampling which tests chromosomal or genetic disorders in the fetus