POLD1 is a gene that provides instructions for making a protein called DNA polymerase delta. This protein works together with other DNA polymerases, including POLE, to copy DNA when cells divide. Like POLE, POLD1 has a proofreading function that helps correct mistakes during DNA replication. This proofreading keeps the genetic code accurate and prevents harmful …
Read More »
Molecular testing is a type of laboratory testing that searches for specific changes in the genetic material (DNA or RNA) or proteins inside your cells. These changes can help doctors better understand the cause of a disease, how it might behave, and which treatments are most likely to be effective. Molecular testing is often performed …
Read More »
The DPYD gene provides the instructions for making an enzyme called dihydropyrimidine dehydrogenase (DPD). This enzyme plays an important role in the body’s ability to break down and eliminate certain chemotherapy drugs, especially medications used to treat cancer such as 5-fluorouracil (5-FU) and capecitabine. What does the DPYD gene do? The DPD enzyme made by …
Read More »
PMS2 is a gene that produces a protein involved in DNA repair, specifically in a process called mismatch repair. This protein works closely with other mismatch repair proteins, including MLH1, MSH2, and MSH6, to detect and fix small errors that occur when DNA is copied in dividing cells. Together, these proteins play an important role …
Read More »
A translocation is a specific type of genetic change where a piece of one chromosome breaks off and attaches to another chromosome. Chromosomes are structures inside your cells that carry DNA, which contains the instructions your body needs to grow and function. When pieces of chromosomes switch places, they create new combinations of genetic material. …
Read More »
A karyotype is a laboratory test that looks at a person’s chromosomes. Chromosomes are long, organized structures made of DNA, which carry the genetic instructions that tell your body how to grow and function. In a karyotype test, the chromosomes are stained with a special dye and examined under a microscope. This allows doctors to …
Read More »
