Cytogenetics and Genomics Laboratory
Cytogenetics is a specialized laboratory test involving the study of normal and abnormal chromosomes. Cytogenetics studies are perfomed on blood, bone marrow, amniotic fluid, and solid tissue specimens. Cells from the specimen are culture, harvested and banded then viewed under a microscope for numerical and/or structural abnormalities. Chromosome analysis is an important laboratory diagnostic tool because changes in chromosomes can lead to birth defects, mental retardation, miscarriage, infertility and cancer. More information about Cytogenetics can be found in our Cytogenetics Gallery.
UWMC Clinical Cytogenetics and Genomics Services
- Neoplastic Cytogenetics - Complete analysis of 20 metaphase cells on bone marrow, blood, lymph node and tumor
- Amniotic Fluid and Chorionic Villi Cytogenetic Analysis
- Peripheral Blood Cytogenetic Analysis
- Tumor and Solid Tissue Cytogenetic Analysis
- FISH and Molecular Tests
Phone: 206-598-4488
Fax: 206-598-2610
Please use the Cytogenetics and Genomics Request Form to submit patient specimen for Cytogenetic testing.
Please view the Hematologic FISH request form for access to the entire list of FISH offered by Cytogenetics and Genomics.
For information, including CPT codes and turnaround times, please review the Cytogenetics test menu.
Please review and/or download the Cytogenetics Sample Collection instructions.
New ACMG Guideline for Cytogenetic Microarray (CMA)
In a new Practice Guideline, the ACMG Board of Directors has recommended the use of cytogenetic microarray (CMA) for copy number variation (CNV) as a first-line test in the initial postnatal evaluation of individuals with multiple anomalies (not specific to a well-delineated genetic syndrome), apparently non-syndromic developmental delay/intellectual disability, or autism spectrum disorder. This acknowledgement by the College of the clinical validity and clinical utility of the test should provide a clear valuable basis for reimbursement for such laboratory services. The full guideline is available on-line at www.acmg.net (publications/practice guidelines).
New Service Offered - Comparative Genomic Hybridization (array CGH) Test
The Cytogenetics and Genomics Laboratory at UW Medicine Pathology is very pleased to announce that an array-based Comparative Genomic Hybridization (array CGH) test is now offered for the detection of constitutional genomic imbalance. The Cytogenetics Laboratory will be changed to "Cytogenetics and Genomics Laboratory" to reflect this new service and the direction Cytogenetics will go in the future.
This clinical genomic test can detect chromosome aberrations, specifically, unbalanced chromosomal abnormalities associated with DNA copy number gains and losses at very high resolution that would otherwise be undetectable by karyotype or targeted FISH analysis. We utilize custom-designed arrays with approximately 135,000 oligonucleotides covering the whole genome and targeting every region known to be involved in genetic abnormalities which includes over 200 syndromes, approximately 700 genes related with human development, and the gene-dense regions at pericentromeres and subtelomeres. Array CGH will detect aneuploidy, deletions, and duplications of the loci represented on the microarray. Studies show that array CGH technology is having a tremendous clinical impact on the practice of medical genetics in both prenatal and postnatal areas, and being rapidly incorporated in clinical diagnostic laboratories to evaluate known as well as novel genomic deletion and duplication syndromes. Array CGH offers a much higher diagnostic yield especially for genetic testing of individuals with following conditions:
Multiple congenital anomalies (MCA)
Developmental delay/intellectual disability (DD/ID)
Autism spectrum disorders (ASD)
Psychiatric disorders (e.g. schizophrenia and psychosis)
The UW Medicine Pathology Cytogenetics and Genomics Laboratory is prepared to deliver the new Array CGH service to physicians, community hospitals, independent laboratories and other health care organizations.
Lab Members
Yajuan Liu, Ph.D., Co-Director
Christine Disteche, Ph.D., Co-Director
Thomas Norwood, M.D., Co-Director
Kathy Leppig, M.D., Co-Director
Rebecca Gaulin, CLSp,(CG) Laboratory Supervisor
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