| Test: |
Fluorescent in situ hybridization – Aneuploidy |
| Alternate names: |
FISH |
| Description: |
Hybridization of fluorescent test probe to specific locus on chromosome. |
| Clinical: |
Suspected trisomy: Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13). Turner syndrome (45,X) and Klinefelter syndrome (47,XXY). |
| Methodology: |
Uncultured amniocytes are prepared for FISH. Uncultured and cultured blood cells can be used. Denaturation, hybridization and post-hybridization. Analysis using fluorescent microscope. |
| Turn around time: |
48 hours |
| Transit stability: |
Should reach the laboratory within 24 hours. |
| Comments: |
Alert the laboratory immediately. |
| Sample: |
Amniotic Fluid |
| Type: |
Cytogenetics |
| Method: |
NOT GIVEN |
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| Consultant/scientist: |
Ms Theresa Ruppelt |
| Tel: |
021 4044508 |
| email: |
Theresa.Ruppett@NHLS.ac.za |
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| Contact for results: |
Cytogenetic Results |
| Tel: |
021 404 4509 |
| email: |
xxx@xxx.xxx |
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| Delivery address |
C17, Groote Schuur Hospital, Observatory, , 7935 |
| for samples: |
Cape Town |