Prader-Willi Syndrome FISH Analysis
Related Gene(s): MAGEL2, MKRN3, OCA2, snoRNAs, SNRPN
Prader-Willi syndrome (chromosome location 15q11.2q13) FISH (fluorescence in situ hybridization) is offered for diagnosis of individuals with clinical features of Prader-Willi syndrome, including intellectual disability, hypotonia, hypogonadism, food obsession, and behavior problems. The detection rate of FISH analysis for this disorder is approximately 70%.
Specimen Requirements
Prenatal
- Amniotic fluid: Minimum total specimen size 15 mL
- Chorionic villi: Minimum total specimen size 4 mg
Postnatal
- Whole blood: Minimum 5-10 mL in sodium heparin tube (green top)
Ordering Information
Shipping
- Ship at room temperature
Turnaround Time
- Prenatal: 5-7 days
- Postnatal: 7-10 days
Related Tests
Resources
Prenatal Test Requisition with Sequenom NIPT
General Test Requisition
Chromosomal Microarray and Microdeletion FISH Panel Information Sheet