Question

Give an example of a molecular diagnostic test used to determine.

Your answer will include the disease, the gene assessed, the change being detected and how treatment or choice of further testing may be altered in light of the test results.

Cancer mechanisms – changes in endocrine/chemo therapy Karyotyping - FISH

Duchenne and MLPA assessment

Answer 1

Different diagnostic tests are being employed for the examination of condition or disease. There are biochemical, cellular and molecular approaches for the determination of a disease in a patient. Initial screening can be performed by blood cell counts through CBC and basic assumptions can be drawn on the basis of hematological results and further molecular examination needed to rule out any doubt regarding the proper diagnosis of disease.

For molecular test, it is important to see the level of different genes like anti tumor (p53) or expression of pro-oncogene/oncogene, which can be evaluated through real time PCR and also through study of single nucleotide polymorphism, SNPs (for probability of disease). Tissue samples can be examined for biopsies to see abnormalities in the cell levels (a prominent test for different cancers).

In the case of malignancy or cancer condition, a number of endocrine, biochemical and cellular levels altered which can be examined through levels of hormones, enzymes and also phenotypic changes in the target cell and finally molecular marker can give us the exact situation. For chromosomal changes karyotype for syndromic condition due to change in the chromosomes like Duchenne disease (abnormal muscles problem, muscle dystrophy, sometimes lethal condition) can be done and in situ hybridization methods through fluorescent probe (FISH) is another important approach for specific cancers like breast cancer in patients through observation of additional copies of genes like HER2 etc and another MLPA test can be employed genetic tool or test for determination which is amplification of multiplex ligation probe. Cancer condition can be treated up to certain level through non-surgical methods like chemotherapy wherein physician use chemical or anti cancer drugs to kill cancer cells only and inhibit further proliferation another method is radiation therapy.