Angelman genetic diagnostic testing

eagle-i ID

Resource Type

Properties

1. Fee for service

   Yes

2. Resource Description

   "Reference Range: Angelman Syndrome is linked to the functional loss of imprinted genes located in the maternally derived 15q 11-q13 region. In 75% of these cases this is the result of a maternal deletion of the 15q 11-q13 region; paternal uniparental disomy accounts for another 3-7% of cases. Comments: Fluorescent In-Situ Hybridization methods combine molecular and cytogenetic techniques. They are employed to delineate subtle syndrome related chromosome defects. Multiple chromosome 15 probes are used for the detection of deletion in the Prader-Willi/Angelman Syndrome region. Please use the Cytogenetics Laboratory Request Forms available on the wards or from the Cytogenetics Lab. Please include detailed clinical information related to the reason for referral to cytogenetics."

3. Contact

   Olson, Susan B., Ph.D.

4. Contact

   Wilcox, Kim

5. Topic

   Angelman syndrome

6. Service Provided by

   Clinical Cytogenetics Laboratory

7. Website(s)

   http://www.ohsu.edu/xd/health/services/lab-services/labtests/results.cfm?input1=angelman&labtestid=ECDE32B1-B699-1686-F054FCCAE5CC7168&keywords=&ohsuservicecode=&eapcode=&cptcode=&labsectionid=

8. Related Technique

   Fluorescent in situ hybridization

9. Related Technique

   Karyotyping assay