Question

Genetic testing/screening – what info can be gained from this testing. Where can someone obtain genetic testing and what are the considerations when interpreting results as well as doing at-home testing?

Answer 1

Genetic testing;

It is a type of test identifies changes in chromosomes, genes, or proteins. It is particularly useful in determining the probability of developing a genetic disorder in the future. For example, the probability of developing cancers of the breast is determined by the prevalence of a gene called BRCA1. Currently, there are more than 1000 different types of genetic tests.

Molecular genetic tests study single genes or short lengths of DNA. Chromosomal tests analyze whole chromosomes or long lengths of DNA. Biochemical tests analyze the amount or activity level of proteins.

Who does a genetic test?

In most regions, a medical geneticist, primary care doctor, specialist, or nurse practitioner are responsible for ordering the test. The test can also be done as a part of genetic counseling.

What analysis can be done-?

The sample that is taken from the patient – usually blood, hair, skin, amniotic fluid - undergoes various molecular, chromosomal, and biochemical tests. The technicians look out for specific changes in chromosomes, DNA, or proteins, depending on the suspected disorder. Positive results often indicate that a change has been found in a particular gene, chromosome, or protein of interest. The results may confirm whether there are mutations in the person’s DNA, and also can help in determining the propensity towards developing certain diseases like cancer.