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Diagnostic Testing

Molecular Diagnostic Laboratories at CUMC

Cytogenetics Laboratory
The Laboratory performs all diagnostic cytogenetic analyses at the Columbia University Medical Center. This includes karyotype analysis from blood samples on children with congenital anomalies and/or mental retardation, prenatal diagnosis via amniocentesis or chorionic villus sampling, studies of tissues from spontaneous abortion specimens and tumor cytogenetic analysis from bone marrow or solid tissues. Molecular cytogenetic techniques like FISH and CGH are used as an adjunct to chromosome analysis in appropriate cases.

DNA Diagnostics and Molecular Pathology
The Molecular Pathology Laboratory of Columbia University Medical Center is a high complexity laboratory which received its CLIA approval and began offering testing since 1999. Tests are currently being developed with other researchers in Columbia University to provide testing other genetic conditions, using cutting edge technology.
For more information:

Mitochondrial DNA Diagnostics
The Columbia University Department of Neurology provides comprehensive DNA and morphological analyses to diagnose most of the known mitochondrial diseases, specific glycogenoses, and disorders of lipid metabolism.
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