Genetic Disorders Forum
This expert forum is not accepting new questions. Please post your question in one of our medical support communities.
Avatar universal

Genetic Testing

My 18 year old daughter just had a dermatology check up (dad has melanoma). They called to discuss the fact she has 10 cafe au lait spots on her legs and back. Some of these spots are rather large. She was premature (5 weeks early) with a collaspsed lung, pneumonia, anemia. She was in intensive care for 8 days, she weighed 7 lbs, 2 oz at birth, 20 inches. She is now 5' 7", 122 lbs. very active in sports. She has VSD (very small), mild ADD, wears contacts.
We have just finished an extensive series of eye exams, we go in 2 days for results. The next step they are recommending is genetic testing. Does she definitely have a disease because she has these spots? What does the testing involve?
1 Responses
886824 tn?1253736654
The presence of cafe-au-lait spots alone does not definitively diagnosis a genetic condition. However, as you and your daughter are experiencing, it does often prompt additonal testing/exams to see if there are other features present that are characteristic of a genetic syndrome.

Your doctors may be investigating a genetic condition called neurofibromatosis (NF) type 1. This condition is characterized by specific skin findings and eye findings as well as the growth of tumors along nerves in the skin, brain, and other parts of the body. For a person to be diagnosed with NF type 1, they need to meet specific clinical diagnostic criteria.

NF type 1 is caused by mutations in a gene called NF1, which is located on chromosome 17 at the location q11.2. Genetic testing for mutations in this gene can be used to confirm a clinical diagnosis of the disease.

We recommend that you and your daughter meet with a medical geneticist for evaluation. A medical geneticist can be found at the American College of Medical Genetics website. We wish you both the best.
Popular Resources
An interview with the co-discoverer of one of the biggest breakthroughs in cancer research
For people with Obsessive-Compulsive Disorder (OCD), the COVID-19 pandemic can be particularly challenging.
A list of national and international resources and hotlines to help connect you to needed health and medical services.
Here’s how your baby’s growing in your body each week.
These common ADD/ADHD myths could already be hurting your child
This article will tell you more about strength training at home, giving you some options that require little to no equipment.