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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 the latest testing is constantly under way, while we continue to provide routine cytogenetics tests of the highest quality.
Products of conception / fibroblasts
Pediatric / adult testing (constitutional studies)
Mouse Cytogenetics Core
Fanconi anemia testing
A unique feature of the Cytogenetics Laboratory is that we write interpretations of results in conjunction with our clinical experts. They review pertinent 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 case-by-case consultation.
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.
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.
We offer microarray service options for multiple sample types: tech only, with data generation, or full service, with data generation and interpretation.
Search all tests offered by the Clinical Laboratories at Cincinnati Children's.
New! T-Cell FISH Panel: T-cell leukemia / lymphoma FISH probe set is now available! This panel includes TRAD (14q11.2) breakapart probe; TRB (7q34) breakapart probe; TRG (7p14) breakapart probe; and t(9;22)(BCR/ABL1) dual fusion probe. If all findings are normal, test will automatically reflex to MLL (11q23).
Starting Sept. 18, 2013: Updated multiple myeloma FISH panel adding 1p32.3 / 1q21(CKS1B). Reported in patients at diagnosis and at relapse, also associated with disease progression.
Bloom syndrome: Cincinnati Children’s is excited to announce the launch of Bloom syndrome diagnostic testing by sister chromatic exchange (SCE).
New FISH probes: New renal cell carcinoma FISH probes are available. TFE3 (Xp11.23) FISH, and if positive, automatically reflexes to ASPSCR1 / PRCC / TFE3 FISH translocation analysis.
Starting June 17, 2013: Our SNP microarray is now performed using the CytoSNP-850K BeadChip. This chip has enriched coverage for 3,262 genes of known cytogenetic relevance.
Starting March 18, 2013: Our SNP microarray is now performed using the OmniExpressExome microarray chip. The chip contains a backbone of more than 700,000 genome-wide markers with an additional 240,000 markers located within exons of functionally relevant disease genes. This chip provides more markers over relevant genes / regions while still providing excellent coverage of common SNP variation areas.
Starting Dec. 3, 2012: We can now perform chromosome breakage analysis for Fanconi anemia on skin or cultured fibroblasts.
Starting Oct. 15, 2012: The Cytogenetics Laboratory has adopted the ACMG standards and guidelines. We have also changed to human genome reference assembly build GFCh 37.
Download: Laboratory Reporting Guidelines
Now available: FISH analysis of CD138+ cells in multiple myeloma
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