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The laboratories of the Medical Genetics Institute use state-of-the-art equipment and the most up-to-date techniques available to diagnose and manage genetic disorders, dysmorphic syndromes, short stature and connective tissue diseases for newborns, children and adults. Mental retardation evaluations, prenatal diagnosis and genetic counseling are also available.
The Cytogenetics Laboratory performs tests that evaluate the chromosomes of a patient's tissues. This includes tests for blood karyotypes, fragile-X studies, chromosome breakage studies, amniocentesis, chorionic villus sampling, fibroblast cultures, bone marrow preparation and cancer cytogenetics. Other services include culturing of amniotic fluid cells, chorionic villi, lymphocytes, and fibroblasts; chromosome analysis on prenatal samples, newborns, children, cancer patients and other individuals; and specialized testing for rare genetic disorders, including Fanconi's anemia, Bloom syndrome, ataxia telangectasia, di George syndrome, Velocardiofacial syndrome, Prader-Willi syndrome and Miller-Dieker lissencephaly.
DNA Diagnostics Laboratory
This laboratory provides consultations and molecular genetic diagnostic studies for neurofibromatosis and other inherited diseases, chromosome 21 and other chromosome abnormalities.
HLA and Immunogenetics Laboratories
The HLA and Immunogenetics Laboratories use the newest and most-up-to-date techniques to perform tissue typing for transplantation.
Genetic Pathology Laboratory
This lab provides expert evaluation of specimens from patients with bone and connective tissue disorders.