Genetics and Genomics Diagnostic Laboratory
Cytogenetics

Cytogenetics Testing and Interpretation

Cytogenetics Laboratory banner.

The Cytogenetics Laboratory combines state-of-the-art techniques with comprehensive interpretation of test results by experienced, board-certified cytogenetics experts. 

We have been providing quality testing service for more than 40 years to local, regional and national healthcare providers. Our laboratory continues to provide accurate, timely and competitively priced cytogenetic tests for a variety of indications.

Development of new technology and testing are constantly under way, while we continue to provide routine cytogenetics tests of the highest quality.  

Our Specialty Services              

Prenatal testing

Products of conception / fibroblasts

Oncology testing

Pediatric / adult testing (constitutional studies) 

 

Fanconi anemia testing

Why Choose Us

  • Our Experience: The Cytogenetics Laboratory team includes board-certified, experienced cytogeneticists who oversee and interpret every test. Our cytogeneticists also regularly communicate with requesting physicians on complex cases.
  • Our Clinical Experts: A unique feature of the Cytogenetics Laboratory is that we write interpretations of results in conjunction with our clinical experts. They review clinical data, in addition to results of cytogenetic testing, to provide clinically relevant interpretations and recommendations for management of patient care. Clinical experts are available for consultation.
  • Our Guidance: Skilled and dedicated cytogenetic technologists perform the hands-on testing of specimens. They, along with our genetic counselors, provide guidance in test selection, clinical interpretations, recommendations for genetic counseling and coordination of studies for at-risk family members.

Clinical Laboratory Index

View all tests offered by Cincinnati Children’s.

Diagnostic Tests and Requisitions

Cytogenetics Laboratory tests.

New: Episignature Analysis

Episignature Analysis can identify episignatures associated with many single gene disorders including many mendelian disorders of epigenetic machinery, other single gene disorders, certain chromosome conditions, imprinting disorders, multi-locus imprinting disorder, Fragile X syndrome, fetal valproate syndrome, and recurrent constellations of embryonic malformations (including VACTERL and VATER).
Episignature Test Information | Test Requisition

Introducing: Optical genome mapping (OGM)

OGM can detect genome-wide structural variants (SVs) at high resolution in a single assay, including copy number variations, unbalanced and balanced SV events (inversions, insertions, and translocations), triploidies, aneuploidies, and other complex chromosomal rearrangements. The Immunology Exome Panel analyzes a predefined list of 442 genes that are associated with immune system defects or related heritable disorders.
OGM Test Information | Test Requisition