The UMass Memorial Laboratories Cytogenetics Service performs chromosome analysis on a variety of specimens with an annual volume of more than 3,000 tests. Chromosome analysis is routinely performed on the following types of specimens: peripheral blood, amniotic fluid, products of conception, skin biopsy, bone marrow, leukemic blood, solid tumor and stem cell (research).
In addition to routine chromosome analysis, the Laboratory 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 more information about available FISH testing.
Genomic microarray testing of congenital anomalies is performed with an Agilent platform containing 180,000 oligonucleotide probes with high density coverage for clinically relevant deletion/duplication syndromes and the telomeric and pericentromeric regions of the genome. Additionally, the array contains genome wide coverage with an average probe spacing of ~75 kb.
This Laboratory also establishes cell cultures 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 Cytogenetics Laboratory is open with full service Monday through Friday, 8 am to 6 pm and Saturday, until 4:00 p.m.. On-call laboratory service is available on Sundays and holidays as required. Director on-call pager coverage is available 7 days a week from 7 a.m. to 11 p.m.
http://www.umassmemoriallabs.org/lab-services/cytogenetics/prenatalconstitutional
365 Plantation Street
Worcester, MA 01605
Phone: 774.442.9015
Fax: 774.442.2112