Test Background
This deletion is associated with RCAD (renal cysts and diabetes) as well as pancreatic atrophy and liver abnormalities. Additionally, there have been reports of individuals with autism spectrum disorder, intellectual disability, macrocephaly, seizures, and recurrent infections. However, not all individuals with this deletion have neurological/cognitive problems. Therefore, there is incomplete penetrance. MLPA is utilized to detect this deletion.
Lab Method
MLPA
