| Test: |
Fluorescent in situ hybridization - Microdeletions |
| Alternate names: |
FISH/Microdeletions |
| Description: |
Hybridization of fluorescent probe to specific locus on chromosome. |
| Clinical: |
Di George/22q deletion; Prader Willi/Angelman syndrome (15q11.2 deletion); Miller Dieker syndrome (17p13 deletion); Smith Magenis syndrome (17p11 deletion); Williams Beuren syndrome (7q11.23 deletion) |
| Methodology: |
Short term culture (72 hours) for T-lymphocytes. Harvest. Denaturation, hybridization and post-hybridization. Analysis using fluorescent microscopes. |
| Turn around time: |
10 days |
| Transit stability: |
2-3 days |
| Comments: |
Amniotic fluid can also be tested. Do not spin if blood sample was taken in a green-topped tube with gel. |
| Sample: |
Blood heparinised 4 ml |
| Type: |
Cytogenetics |
| Method: |
NOT GIVEN |
 |
|
| Consultant/scientist: |
Ms Theresa Ruppelt |
| Tel: |
021 4044508 |
| email: |
Theresa.Ruppett@NHLS.ac.za |
|
|
| Contact for results: |
Cytogenetic Results |
| Tel: |
021 404 4509 |
| email: |
xxx@xxx.xxx |
|
|
| Delivery address |
C17, Groote Schuur Hospital, Observatory, , 7935 |
| for samples: |
Cape Town |
