So WHAT do you do?

I have had a lot of people ask me exactly what it is I do at the Colorado Genetics Lab. I will try to explain it as simple as I can! First off, I am called a Cytogenetic Technician. Cytogenetics is the study of chromosomes. Chromosomes sort of "hold" all your DNA and genes. So by studying someone's chromosomes, we can find out what is wrong with them.

I work in the Postnatal Department, so every patient has been born. They can be a few hours old, or many many years. The most common types of Postnatal cases are:

1. Babies that were born within the last few days that have visual abnormalities such as webbed fingers/toes, Down Syndrome eyes, small heads, mixed genitals, etc.
2. Children ages 3-10 that are having learning disabilities, usually autism.
3. Adults that are having infertility problems.
4. Adult women that are egg donors. All donors in Colorado must have a genetic screening.

The process starts when we receive a green top tube of blood. We separate the blood into 3 different tubes, and add different things to them to make the blood cells "grow." Growing is really just when each cell splits into two (and those two split into two more, and so on). After 3 days of growing we "harvest" the cells. Harvesting stops cell growth, then starts it again to synchronize all the the cells. This process requires lots of timers to add chemicals at very specific time intervals over the course of about 5 hours. Once they are harvested, they are "dead" in a sense that they can't reproduce anymore, and are just "frozen" at a specific state in the reproductive cycle.

Next we put the cells on a microscope slide, and analyze them under the microscope. Once the analysis is complete, you have made a karyotype, which is a map of all the person's chromosomes. They are then compared to what the human chromosomes are supposed to look like. Every single person should have the same 23 chromosomes, so once you learn them, abnormalities should be easy to see. The finished product that we give to the doctor looks like this: http://www.ucl.ac.uk/~ucbhjow/medicine/images/human_karyotype.gif

Right now, I am in charge of the Postnatal Wet Lab, so I am the person who does the set-up and harvest. Sometime in the next year I will learn how to make slides, and how to analyze the chromosomes. I take "chromosome class" 2 times a week, and have learned 19 of the 23 chromosomes. I'm sure this explanation just confused you all even more, but it really is fun and interesting! I love it :) I've been known to say my perfect job "wears a lab coat, gloves, and goggles" which I do, and I said I "wanted to be the person that does stuff to your blood after you get it taken" and I do that too. So I guess I found what I was looking for even though I had never heard of cytogenetics before.

~*~ Ashley ~*~