Miller-Dieker lissencephaly syndrome testing

eagle-i ID

Resource Type

Properties

1. Fee for service

   Yes

2. Resource Description

   "Specimen Requirements: For blood specimens: 3-5 mL drawn into a GREEN top sodium heparin vacutainer or into a pre-heparinized plastic syringe (use 0.2 mL sodium heparin, 1000 unit/mL). Do NOT use lithium heparin. 1-2 cc usually adequate for infants/small children. Keep at room temperature. Prior to sending a sample, please call the laboratory for specific instructions: (503) 494-5400. After hours, contact the Paging Operator at (503) 494-8211 and ask for the Cytogeneticist on call. Comments: Fluorescent In-Situ Hybridization methods combine molecular and cytogenetic techniques. They are employed to delineate subtle syndrome related chromosome defects. The Miller-Dieker Syndrome probe is used to examine chromosome 17 for deletion of the region felt to be responsible for lissencephaly. 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

   lissencephaly

6. Service Provided by

   Clinical Cytogenetics Laboratory

7. Website(s)

   http://www.ohsu.edu/xd/health/services/lab-services/labtests/results.cfm?input1=miller&labtestid=ECDE5EE1-E15A-1184-CC5AEEFCDB6D68E4&keywords=&ohsuservicecode=&eapcode=&cptcode=&labsectionid=

8. Related Technique

   Fluorescent in situ hybridization