Early genetic testing

Genetic testing refers to clinical tests that seek to detect any abnormal changes on chromosomes, proteins or genes in the human which may be culprits of the cause of particular diseases.

The roles of genetic testing

Genetic testing is carried out for a wide spectrum of reasons which include

Helping in the diagnosis of a particular disease

Guide the treatment to apply following the diagnosis

Detect the cause of a particular disease.

Determining the risk of an individual contracting a particular disease.

Determining the probability of the parent passing an inherited disease to their children

Screening of the baby or fetus for inherited genetic disorders.

Methods of genetic testing

If you want to undergo genetic testing, there are three technologically empowered methods through which the need can be executed. We believe in their reliability and accuracy and they include: molecular testing, Chromosomal Genetic analysis and Biochemical Genetic testing.

Molecular testing

In this test, a single gene or a short length of DNA is analyzed by the help of a range of technologies to detect any mutations or variations that lead to disease development. Some of the technological means used include Whole Genome Sequencing, Whole Exome Sequencing and Single Nucleotide Polymorphism sequencing which all detect gene variations and detection. The means have been used in the diagnosis of thalassemia which occurs due to particular gene deletions which are evidenced by these technological means.

Chromosomal Genetic analysis.

The human genes and DNA are packaged in thread-like structures called chromosomes. There are 23 pairs of chromosomes in the human body, the first 22 pairs are somatic while the last pair is referred to us the sex chromosome pair. Any variation in the structure or numbers of these chromosomes will most likely cause disease. Studying the structure and number of chromosomes (chromosomal karyotyping) is therefore vital by telling us if there is an extra number or lesser number of chromosomes. Moreover, the analysis can show us any chromosome with extra or missing genetic material as is in gene deletions. Atypical chromosomal structures can also be detected.

The test is done by a collection of a blood sample from the patient, the specimen is mixed with special chemicals which color the chromosomes and support the division of the cells in the blood. The colored chromosomes are then observed under a high-quality microscope to study the chromosomes that look like bands.

Biochemical Genetic testing.

Biochemical testing refers to the study of the activity and or the amount of particular proteins in an individual. When there is an abnormality in any of the two, it amounts to the presence of disease condition most likely arising from a genetic disorder. That is because, proteins and enzymes are encoded genes, so an abnormality in the two signifies a genetic abnormality. Protein and enzymatic assays that are technologically mediated are of importance in the detection of a disease process. An example is in the Tay-Sachs disease, hexosaminidase A enzyme assay show that it is absent. The enzyme is important in ganglioside break down, its absence leads to ganglioside accumulation in the brain cells leading to disease such as psychomotor regression.


Biochemical genetic testing – Health encyclopedia – University of Rochester Medical Center. (n.d.). Welcome to URMC – Rochester, NY – University of Rochester Medical Center. https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=90&contentid=P02114

Chromosome analysis test. (n.d.). https://www.nationwidechildrens.org/family-resources-education/health-wellness-and-safety-resources/helping-hands/chromosome-analysis-test

What is genetic testing?: MedlinePlus genetics. (n.d.). MedlinePlus – Health Information from the National Library of Medicine. https://medlineplus.gov/genetics/understanding/testing/genetictesting/