Genetics and Genomics Diagnostic Laboratory

Cytogenetics Laboratory | Testing Catalog

Tests Offered

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

We use the current version of the ISCN in reporting of Cytogenetic Chromosome and FISH results.

Prenatal Testing – Amniocentesis and CVS Samples

• Prenatal Reflex Algorithm
• Aneuploidy FISH panel (chromosomes 13, 18, 21, X and Y) 
• Chromosome analysis
• Microarray
• Optical Genome Mapping
• Contact lab for special studies (culture and hold, send out testing, etc.)
• AFP, ACHE, viral studies (see prenatal requisition for details)
• FISH probes for specific microdeletion syndromes 

Products of Conception / Fibroblasts

• Chromosome analysis
• Tissue culture establishment
• Microarray 

Pediatric / Adult Testing (Constitutional Studies)

• Neurodevelopmental Reflex Algorithm: Microarray, Fragile X, MECP2, PTEN reflex based on head circumference and sex 
• 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
• Optical Genome Mapping
• Episignature Analysis

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