Angelman Syndrome by FISH
FISH, Angelman syndrome
Angelman syndrome by FISH request
Sodium heparin peripheral blood
1mL. 4mL preferred
Storage and stability information:
Room temperature 3 days.
Once per week
Fluorescence in situ hybridization
See lab report
Seventy percent of patients with Angelman syndrome have an interstitial deletion of chromosome 15. Approximately 7% of patients with Angelman syndrome do not have the deletion, but instead have two copies of the 15q11.2q13 critical region that are inherited from the father. This form of inheritance is known as paternal uniparental disomy. Another 3% have evidence of normal biparental inheritance of chromosome 15, but have an imprinting mutation. DNA methylation studies can be performed to detect these abnormalities. Eleven percent of patients have a mutation in the UBE3A gene and are detected by sequence analysis. In the remaining patients, the genetic mutation has not been identified.
88368 x 3