A Parent's Guide To What To Expect During A Pediatric Genetic Testing Evaluation

Posted on: 11 June 2015

If a physician expects that your child has chromosomal disorders or genetic conditions, it is highly likely that you will be referred to a genetic testing company or specialist for a through analysis and evaluation. As a parent, this can be both frightening to face with your child and yet exciting, since genetics can often give you an inside look at a specific diagnosis so treatment becomes an easier path. If your child has an upcoming genetic testing evaluation, it is only natural natural that you will have questions about what to expect. Here are a few of those questions and the answers you will be happy to know.

Should you bring along previous records?

When you are preparing for the initial genetic evaluation appointment, it is always best to bring along records from other specialists and physicians who have worked with your child. The geneticist will use all available records to thoroughly assess information that have already been found. It will also be helpful if you bring medical records from your pregnancy and records of any testing that was performed.

What will the initial evaluation involve?

During the first visit at a genetic testing facility, you will thoroughly go over previous medical history that your child has. You will discuss symptoms that have been apparent. Be prepared to answer a lot of in-depth questions from the geneticist. The visit will also probably involve a physical examination of your child. The geneticist may measure certain features of your child, such as facial features, which could be indicative of certain genetic disorders.

How long will it take at the first appointment?

You should expect the first appointment to be one of the longest in a series of visits to the geneticist. The professional will use this time to get familiar with you, your child, and their medical history. Plus, there will be some time dedicated to deciding what further testing should take place.

What kinds of tests will have to take place?

There are several different ways that genetic testing can be done beyond an initial evaluation. Taking close and comprehensive approaches to blood testing is probably the more common. However, urine analysis, saliva testing, and other more intrusive tests, such as muscular or skin biopsies, may be performed in specific cases.

The bottom line is that genetic testing is a crucial step in finding an accurate diagnosis for your child. Make sure to talk openly with your pediatrician and the geneticist at the first appointment about any concerns you have or questions about the process.

To look into genetic testing further, contact local genetic testing companies.