Carrier screening is a genetic test used to determine if a person is a carrier for a specific autosomal recessive inherited disorder. This screening is most commonly used by couples who are considering pregnancy and want to determine beforehand whether the child would inherit genetic diseases. The American Congress of Obstetricians and Gynecologists (ACOG) recommends … Carrier Screening
Chromosomes are strands of deoxyribonucleic acid containing so-called histones (basic proteins within a nucleus) and other proteins; the mixture of DNA, histones, and other proteins is also called chromatin. They contain genes and their specific genetic information. Histones are basic proteins that not only serve to package DNA, but are also essential for the expression … Chromosomes: Structure and Function
Epigenetics deals with heritable molecular traits whose basis is not the DNA sequence. The prefix epi- (Greek: επί ) indicates that modifications “on” the DNA are considered instead. A distinction is made between the subfields of methylations and histone modifications (histones = proteins wrapped by DNA, whose “octamer” unit consists of two copies of the … Epigenetics Explained
Microarray analysis/Array-CGH (Comparative Genomic Hybridization) is a relatively new genetic screening method that can be described as “high-resolution chromosome analysis.” It is used to identify and measure the activity of specific genes. In the context of array CGH (= Comparative Genomic Hybridization), the entire genome is examined for copy number changes (deletions/ loss of a … Array CGH: Microarray Analysis
The NIPT (= “non-invasive prenatal testing”, NIPT or “Non-Intrusive Pregnancy Diagnostic Test”. NIPDT; non-invasive prenatal test; synonyms: Harmony test; Harmony Prenatal Test) is a molecular genetic blood test for the detection of cell-free DNA (cfDNA test, cell-free DNA test). Cell-free DNA are DNA fragments from chromosomes that circulate freely in maternal blood during pregnancy. They … NIPT
The PraenaTest is used for the risk-free determination of chromosomal defects (see below) from the mother’s blood. The test thus represents a risk-free alternative (= “non-invasive prenatal testing”, NIPT or “Non-Intrusive Pregnancy Diagnostic Test”, NIPDT) to conventional invasive examination methods, such as amniocentesis. The pregnant woman should be at 9+0 weeks of gestation (SSW) or … Praenatest
Deoxyribonucleic acid (DNA), also known as DNA in German, is a biomolecule (biologically active compounds or molecules found in living things) with the property of carrying genes and their inherited properties. It is found in all organized entities with the abilities of metabolism, reproduction, irritability, growth and evolution, as well as in some types of … Deoxyribonucleic Acid
Single-gene analysis is a targeted genetic testing method. Within the framework of this procedure, if a hereditary disease is suspected, which is triggered by a single change in a gene, the gene suspected as causal is examined. This is also often done routinely as part of screening examinations. Indications (areas of application) Diagnosis of monogenic … Single Gene Analyses
Fluorescence in situ hybridization (FISH) is a genetic screening method for the detection of DNA (deoxyribonucleic acid) in nuclei of individual cells. This method involves the use of specific DNA probes that can only provide information about genomic regions for which the probe used is specific. Indications (areas of application) Suspicion of numerical chromosomal aberration: … Fluorescence in Situ Hybridization
Genes are sections of chromosomes, which in turn are sections of DNA that carry the hereditary information and are found in every cell, where a gene can be seen as the code of the cell. The physical location of genes is called the gene locus (gene locus). Specific genes have specific tasks. The totality of … Gene
Genetic testing (synonyms: DNA analysis, also DNA test, DNA analysis, DNA test, gene analysis, genome analysis) refers to molecular biological procedures that examine DNA (German abbreviation DNS: deoxyribonucleic acid) in order to draw conclusions about various genetic aspects of an individual. In the meantime, more than 3,000 monogenic diseases (monogenic diseases, “single-gene disease”) have been … Gene Test
Ribonucleic acid (RNA), also known as RNA in German, is a molecule composed of the chains of several nucleotides (basic building blocks of nucleic acids). It is found in the nucleus and cytoplasm of the cells of every living organism. Furthermore, it is present in certain types of viruses. The essential function of RNA in … Ribonucleic Acid
