DiGeorge/velocardiofacial syndrome screening

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. Pediatric Specimen Requirements: 1-2 mL whole blood in GREEN top sodium hepartin. Comments: Fluorescent In-Situ Hybridization methods combine molecular and cytogenetic techniques. They are employed to delineate subtle syndrome related chromosome defects. Chromosome 22 specific probes are used for detection of deletion in the DiGeorge/Velocardiofacial region."

3. Contact

   Olson, Susan B., Ph.D.

4. Contact

   Wilcox, Kim

5. Topic

   DiGeorge syndrome

6. Service Provided by

   Clinical Cytogenetics Laboratory

7. Website(s)

   http://www.ohsu.edu/xd/health/services/lab-services/labtests/results.cfm?input1=dige&labtestid=ECDE48F8-0521-DC65-F06E1F7B95EA218E&keywords=&ohsuservicecode=&eapcode=&cptcode=&labsectionid=

8. Related Technique

   Fluorescent in situ hybridization