What is this test for?
Angelman syndrome should be considered in patients with intellectual disability, developmental delay, speech impairment (no speech at all or meaningless repetition of words), ataxic gait, episodes of inappropriate laughter, autistic behaviors, and afebrile seizures. There is usually no family history, and findings appear between 0 and 3 years of age. It is more common in girls. It is caused by a defect on chromosome 15. In more than 70% of patients, the disease is caused by deletion of a region (15q11-13) on the maternally inherited chromosome 15. Therefore, in patients with suspected Angelman syndrome, 15q11-q13 deletion is tested by FISH.
Sample information
- Sample type: Whole Blood (Li-Heparin) 2 tubes
- Tube / container: Green-top tube
- Sample volume: 3 mL
Preparation
Fasting not required
Testing and results
- Run schedule: Weekdays at 09:00
- Turnaround time: 16 days, 18:00
Price and appointment
Add the test to your list to receive a price quote by e-mail, or call +90 850 640 07 30 / message us on WhatsApp (+90 537 301 22 14). You can have the test done at our branches or with our home blood collection service. Results can be viewed online with your Turkish ID number (or passport number for foreign nationals).