15q26 overgrowth syndrome
Diagnosis and Testing
Can I get tested for 15q26 overgrowth syndrome?
There are several different specialized genetic tests that can diagnose 15q26 overgrowth syndrome. 15q26 overgrowth syndrome is a chromosome disorder. Chromosomes are structures found in almost every cell of a person's body that contain the body's genetic information. Therefore, testing for 15q26 overgrowth syndrome examines a person's chromosome material. These types of tests are typically ordered when a medical team has a strong suspicion that a patient's symptoms may be due to a chromosome disorder. Tests called genomic microarray analyses (there are several different types) and FISH (fluorescence in situ hybridization) can be used to diagnose 15q26 overgrowth syndrome. There are several specialized genetic laboratories that offer this type of testing including: Emory Genetics Laboratory and GeneDx. To find other laboratories that offer this type of testing, visit the GeneTests website and search for "chromosome microarray". A genetics provider can help determine if this testing is appropriate for you or your child, and if so, can help decide which specific type of test, and which laboratory, would be best.
To find a medical professional nearby who can discuss information and testing, A listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.
Levy B, Tegay D, Papenhausen P, Tepperberg J, Nahum O, Tsuchida T, Pletcher BA, Ala-Kokko L, Baker S, Ferederick B, Hirschhorn K, Warburton P, Shanske A. "Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?" Genetics in Medicine 2012. 14(9):811-818.