Division of Human Genetics Diagnostic Laboratories

The Cytogenetics Laboratory at Cincinnati Children's offers several tests. Click the links below or call 513-636-4474 for more information.

We use ISCN 2013 nomenclature in reporting of cytogenetic chromosome and FISH results.

Prenatal Testing – Amniocentesis and CVS Samples

• Chromosome analysis
• Aneuploidy FISH panel (chromosomes 13, 18, 21, X and Y)
• FISH probes for specific microdeletion syndromes 
• Microarray 

Products of Conception / Fibroblasts

• Chromosome analysis
• Tissue culture establishment
• Microarray 

Pediatric / Adult Testing (Constitutional Studies)

• Chromosome analysis
• Newborn STAT FISH to rule out aneuploidy
• Mosaicism study to rule out mosaic aneuploidy
• FISH probes for specific microdeletion syndromes 
• Microarray 
• Tools for physicians 

Fanconi Anemia 

• Chromosome breakage testing and comprehensive Fanconi anemia diagnostic testing 

Bloom Syndrome

• Diagnostic Bloom syndrome testing by sister chromatid exchange (SCE) 

Oncology Testing (Acquired)

• Chromosome analysis (blood, bone marrow, tumor)
• FISH panels and probes 
• Microarray