Cytogenetics
The UMass Memorial Laboratories Cytogenetics Service performs chromosome analysis on a variety of tissues with an annual volume of more than 2,000 specimens. Chromosome analysis is routinely performed on the following types of specimens: peripheral blood, amniotic fluid, products of conception, solid tissue, bone marrow and leukemic blood.
In addition to routine chromosome analysis, the laboratory also performs molecular cytogenetic testing for a number of constitutional 
microdeletion syndromes, as well as for the detection of subtle cytogenetic abnormalities associated with neoplasia. Testing is performed using fluorescence in situ hybridization (FISH) on metaphase or interphase chromosomes. In general, FISH testing is more sensitive for the detection of specific subtle chromosome abnormalities and should be ordered instead of high resolution analysis when a specific chromosome rearrangement is suspected. Contact the laboratory for information about FISH testing performed in-house or available as send-out testing through our reference laboratories.
This laboratory also coordinates send-out testing for chromosome analyses of solid tumors and establishes cultures of cells for use by reference laboratories that perform metabolic, biochemical or other DNA-based testing. Hard copy reports issued by a reference laboratory are sent to the requesting physician or client.
The laboratory is located at Biotech One, Room 324,
The Cytogenetics Laboratory is open with full service Monday through Friday 8 am to 6 pm. Limited service, including receipt and initial processing of specimens, is provided Saturday mornings. Specimens should arrive in the lab at least 30 minutes prior to closing to ensure that they can be processed on the day of collection. Service is available on Sundays and holidays on an emergency basis.
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