The primary tool of Cytogenetics is karyotype analysis which evaluates all of the chromosomes of a set to determine if there are any changes present that may be associated with disease. Cytogenetic evaluation is utilized in prenatal diagnosis, genetic carrier testing, and assessment of congenital disorders and hematologic disorders. Appropriate specimens include peripheral blood, bone marrow, tissue, and amniotic fluid. Computer technology is very important, allowing the images to be captured and stored electronically. Advanced studies utilize fluorescence in situ hybridization (FISH) for the detection of molecular level abnormalities.
Human chromosome SNP (single nucleotide polymorphism) microarray (CSM) testing allows detection of known and novel chromosome aberrations across the entire human genome, including
This assay does not replace current testing such as karyotype analysis, which identifies larger anomalies, or molecular diagnostics and FISH, that target individual loci, but microarray expands current genetic testing by identifying very small abnormalities throughout the genome.
For patients with developmental delay, dysmorphic features, multiple congenital anomalies, seizure disorders, autism spectrum disorders, myelomas, lymphomas, leukemias, myelodysplasia, or other suspected genetic syndromes or hematological disorders caused by loss or gain of genetic material.
In 2010, chromosomal microarray was confirmed as a first tier clinical technique for individuals found to have developmental disabilities or congenital anomalies not related to a known syndrome.
The Cytogenetics Laboratory uses the CytoScan HD Array System from Affymetrix. The SNP based array contains more than 2.4 million markers for copy number and 750,000 SNPs for genome-wide coverage.
The Laboratory has validated the assay and was approved by the New York State Department of Health to offer the testing clinically for suspected genetic diseases and oncology