Genetic Disorders Expert Forum
Genetic Testing
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Questions in the Genetics Forum are being answered by medical professionals and experts. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing.

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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?
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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.
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