Notice of Cytogenetics Test Changes

Notice of Discontinued Cytogenetic Testing

Aneuploidy screening by interphase FISH methods of prenatal samples (e.g, amniotic fluid, chorionic villi, PUBs) will no longer be offered as in-house tests, as previously provided by UF Healh Pathology Laboratories' Cytogenetics Laboratory

Note: Prenatal chromosome studies by conventional cytogenetic testing remains available through UF Health Pathology Laboratories' Cytogenetics Laboratory, for which preliminary results may be requested via consultation,  and are generally made available within five days after the sample submission.

 


 

Notice of Cytogenetic Testing Methodology Change

Metaphase FISH testing previously offered for microdeletion and/or microduplication syndromes is now facilitated by comparative genomic hybridization microarray (aCGH) testing methods.

A CGH+SNP microarray is the current in-house aCGH platform recommended for congenital applications and can be ordered downloading and completing a separate aCGH Microarray Test Requisition or by calling the laboratory at the phone number below.

Method Performance Specifications

The CGH+SNP microarray offering provides genome-wide coverage with ~120k oligonucleotide and ~60k SNP features and an average probe spacing of ~25kb. The array is designed to detect gains and losses at a minimum of ~ 500 kb across the genomic backbone or smaller for ~ 500 regions of known microdeletion/duplication syndromes or targeted gene-rich areas. Resolution for segmental AOHs is limited to contiguous stretches of  5 Mb or greater but may be reported for smaller sizes when detected in regions currently known or implicated in conditions associated with AOH.

Note: Metaphase FISH testing for preliminary STAT constitutional X/Y/SRY determinations and 22q microdeletion FISH testing will remain available through UF Health Pathology Laboratories'  Cytogenetics Laboratory until further notice.

If you have any questions on these changes, call UF Health Pathology Laboratories' Cytogenetics Laboratory at 352. 265.9900.

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