Personalized Genomic Medicine

This website is in the process of being updated. For more information regarding tests and programs offered by PGM, please contact us by email at PGMinquiry@cumc.columbia.edu, or by phone at (212)305-9706.

Methodologies

Next Generation Sequencing
Cytogenomics Testing


Next Generation Sequencing

To be added

Cytogenomics Testing

The Cytogenomics section provides SNP Oligonucleotide Microarray Analysis (SOMA) for the detection of copy number changes across the human genome. The laboratory has been an integral participant in key clinical trials like the NICHD Prenatal Microarray Study (N Engl J Med. 2012 Dec 6; 367(23):2175-84) as well as the Cancer Cytogenomics Microarray Consortium (http://www.cancergenomics.org).

Cytogenomic microarrays are recommended as the first- line test for individuals with developmental delay, intellectual disability, autism spectrum disorders and multiple congenital anomalies not specific to a well-delineated genetic syndrome (American College of Medical Genomics, 2010 and ISCA, 2010). Cytogenomic microarray analysis identified additional, clinically significant cytogenetic information as compared with karyotyping in samples from women undergoing prenatal diagnosis and was equally efficacious in identifying aneuploidies and unbalanced rearrangements (N Engl J Med. 2012 Dec 6; 367(23):2175-84).

The laboratory uses a high density hybrid array (copy number and SNP) which can provide exon level resolution (depending upon the genomic region) for the detection of chromosomal abnormalities. The array can also delineate copy neutral changes like UniParental Disomy (UPD) as well as consanguinity, both of which are associated with an increased risk for autosomal recessive diseases.

 
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