Skip to main content

DNA Microarray Laboratory

SantiagoUR Medicine's Microarray Laboratory is helping to deliver Microarray CGH in the most effective manner possible. We provide access to a complete range of microarray CGH testing (postnatal, prenatal and cancer) in an environment staffed by doctors who are recognized as leaders in their fields.

Ours is the first clinical laboratory to be granted a permit by the New York State Department of Health’s Clinical Laboratory Evaluation Program to run Microarray CGH testing as an approved test. We are also part of the International Standard Cytogenomic Array Consortium (ISCA) and are actively involved in the development of new diagnostic technologies.

  • We are staffed by knowledgeable NYS licensed Clinical Laboratory Technologists with extensive training in molecular genetics.
  • We are supported by a skilled cytogenetics laboratory that performs traditional karyotyping and Fluorescent In Situ Hybridization (FISH) on prenatal, postnatal and cancer specimens.
  • We offer competitive pricing for Microarray CGH analysis that includes FISH confirmation of positive findings and parental FISH confirmations, if needed.

Our Technology

Microarray CGH

  • Our Microarray CGH Laboratory uses a custom-designed oligonucleotide-based chip designed by  ClinGen (formerly ISCA Consortium) using a commercial platform (Agilent Technologies, USA) and contains approximately 110,712 oligonucleotides (60mers) that represent coding and non-coding human DNA sequences in the genome along with 59,647 SNPs.
  • We also use chips designed by Cancer Genomics Consortium (formerly CCMC) for cancer. By covering more gene regions in all 46 chromosomes, our microarray CGH and CGH-SNP tests provide a more comprehensive analysis than traditional cytogenetics and FISH.
  • Microarray CGH analysis can detect more than 500 microdeletion/microduplication syndromes.
  • Microarray CGH and CGH-SNP analysis will not detect balanced translocations, inversions, smaller imbalances, point mutations, or low level mosaicism (usually 25-30%) that may underlie the clinical presentation of the patient.
  • This assay also detects regions of homozygosity (ROH) which may raise a suspicion of consanguinity or familial relationships.
  • All abnormal array CGH findings will be confirmed by standard chromosome or FISH analysis. Parental studies and additional assays may be necessary to characterize and interpret the clinical significance of arrayCGH+SNP results.

Optical Genome Mapping (Research Only)

Optical Genome MappingOur laboratory has recently become involved in a clinical research project on optical genome mapping, a novel technology developed by Bionano Genomics. OGM allows for the detection of structural genomic variation with unprecedented dynamic range.

  • In a single assay, OGM can detect all classes of SVs, including insertions, deletions, inversions, duplications, copy number variations, balanced and unbalanced translocations, aneuploidies, whole genome triploidy, and absence of heterozygosity.
  • We are involved in a multi-institutional collaboration aimed at developing this technology as a future standard of care, which has culminated in the analysis of hundreds of samples:
  • We are in the process of developing OGM as a New York State Laboratory Developed Test (LDT) for future use in clinical applications.


Anwar Iqbal

M. Anwar Iqbal, Ph.D., FFACMG
Director of Microarray CGH Laboratory and Associate Director of the Cytogenetics Laboratory

Contact Us

  • For more information or to submit samples for testing, call (585) 758-0494.
  • Samples may be submitted through multiple draw stations located throughout Rochester, by courier services from some outlying hospitals and by FedEx using our prepackaged supplies.
  • The laboratory has a technologist on-call 24 hours, 7 days a week to answer any questions or concerns.

Recent Achievements

5/16/2022 - Congrats to Dr. Iqbal, for being the lead author on the platform “Optical Genome Mapping as a Potential Tier1 Test for Postnatal Chromosomal Disorders – Results of Multi-Institutional Validation Study of 331 Retrospective Clinical Samples”, which was presented at the 47th American Cytogenomics Conference in Hilton Head Isand, SC, May 15-18. 

3/23/2022 - A big shoutout to Dr. Nikhil Sahajpal for presenting his poster titled “Optical Genome Mapping for Constitutional Postnatal SV, CNV, and Repeat Array Sizing: A Multi-site Clinical Study” at the ACMG Annual Meeting, March 22-26 in Nashville, TN. Lab member Kamel Awayda and Dr. Iqbal were among the authors of this seminal study. 

3/18/2022 - The Microarray Laboratory is already onto its second OGM-related poster titled “A pilot study of 35 cases using optical genome mapping — A next-generation cytogenetic tool for reproductive genetics," presented at the 26th International Conference on Prenatal Diagnosis and Therapy, June 19-23 in Montreal, Canada.

1/10/2022 - The Microarray Laboratory just presented its first poster on OGM technologies, titled “Optical Genome Mapping as a Next Generation Clinical Tool for Cytogenetics” at the 2022 Bionano Global Genomics Symposium (Virtual).

12/27/2021 - Interested in how OGM holds up in hundreds of samples across several sites? The Array Lab was a substantial part of a preprint deposited on medRxiv today titled, “Multi-site Technical Performance and Concordance of Optical Genome Mapping: Constitutional Postnatal Study for SV, CNV, and Repeat Array Analysis”. This shows OGM has a 97.7% concordance with accepted diagnostic measures, not to mention its ability to synthesize multiple current diagnostic technologies into one!

10/6/2021 - Check out this story in URMC Pathology's Pathways to Excellence newsletter, where the Microarray Lab is featured for their work on the up-and-coming optical genome mapping technology.