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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
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