Chromosomal Microarray Specialist

Organization
Mount Sinai Genetic Testing Lab, Icahn School of Medicine at Mount Sinai, Department of Genetics & Genomic Sciences
Job Location
New York, NY
Benefits

The Mount Sinai Health System is committed to the tenets of diversity and workforce that are strengthened by the inclusion of and respect for our differences. We offer our employees a highly competitive compensation and benefits package, a 403(b) retirement plan, and much more.

Job Description

The Chromosomal Microarray Specialist is a position that assists the high-volume clinical and developmental operations of the Cytogenetics and Cytogenomics division of the Mount Sinai Genetic Testing Laboratory by performing clinical microarray-based comparative genomic hybridization (array CGH) testing and copy number variant (CNV) interpretation.  This position involves wet-bench expertise and understanding of molecular cytogenetics as well as array CGH data analysis from constitutional human specimens (prenatal and postnatal) and subsequent CNV interrogation, quality assessment, interpretation, and clinical classification.  The Chromosomal Microarray Specialist will work directly within an interdisciplinary team of clinical Laboratory Technologists, Laboratory Managers/Supervisors, American Board of Medical Genetics and Genomics (ABMGG) postdoctoral fellows, and ABMGG-certified Laboratory Directors.

 Key responsibilities

Follow laboratory protocols and American College of Medical Genetics and Genomics (ACMG) guidelines, participate in array CGH sample preparation and assay setup when needed.

  1. Analyze clinical array CGH data and monitor sample and assay quality metrics.

  2. First review of clinical array CGH data and classification of identified CNVs based on laboratory protocols, ACMG guidelines, publically available databases (e.g., Database of Genomic Variants, ClinGen) and published literature. 

  3. Interface with Laboratory Technologists, Laboratory Manager/Supervisor, ABMGG postdoctoral fellows, and Laboratory Directors to ensure array CGH cases are performed within appropriate turnaround times.

  4. Be proficient in operating and maintaining array CGH hardware (e.g., scanner) and analysis software (e.g., Cytogenomics, Cartagenia).

  5. Clinical assay development related to array CGH and CNV detection, including new reagent, test, and/or assay validation.

  6. Oversee quantitative PCR confirmation of clinically significant constitutional CNVs.

  7. Compliance with clinical genetic testing regulatory agencies and proficiency programs (e.g., CAP, CLIA, New York State Department of Health.

Requirements

Education and Experience

Master’s Degree required (PhD in Life Science such as Molecular Biology/Genetics preferred).

Minimum of 2-3 years of chromosomal microarray (array CGH) experience.

Laboratory and/or clinical experience in cytogenetics and/or molecular genetics is required (direct array CGH experience preferred), and a strong background in human genetics is essential.  

Ability to read and critically interpret data from scientific publications on a daily basis is expected.  

This position requires cross-disciplinary and strong analytical skills as well as broad experience using computational methods, databases, software and hardware. 

It is also expected that the candidate will have familiarity with publically available genomics databases, including the UCSC Genome Browser, DGV, ClinGen, Decipher, etc.

About Our Organization

About Mount Sinai:

  1. Mount Sinai Health System’s vision is to grow and challenge convention through pioneering spirit, scientific advancements, forward-thinking leadership, a collaborative approach to providing exceptional patient care with seamless coordination to advance medicine through unrivaled education, research, and outreach in the many communities we serve.  All those who wear the Mount Sinai badge were selected because of an evident commitment to these goals and values.

     1.The Mount Sinai Genetic Testing Laboratory, housed in the Department of Genetics and Genomic Sciences, working closely with clinical geneticists who see patients for rare diseases, as well as the bioinformatics team at the Icahn Institute for Genomics and Multiscale Biology, has created a new line of tests that help inform couples of their risks of having a child with a genetic disorder.

     2. Years of population-based research and technology adaptation in our clinical laboratory have created the most comprehensive tests that not only expand the number of diseases screened, but also the breadth of coverage to improve carrier detection rates and provide more accurate residual risk estimates to patients. Our cutting edge approach enables us to report on extensive genomic information in a clinical setting with rapid turnaround time.

     3. The individuals who work in the Mount Sinai Genetic Testing Lab have the opportunity to work to enhance and develop genetic testing panels, ensure premium service to clients and aid in the expansion of our products to new communities.  The structure of the lab allows for hands-on contributions and a commitment to growth by bringing in people who share an entrepreneurial spirit, thrive in an atmosphere of individual and collaborative creativity and most importantly, a desire to be constantly engaged to achieve results.

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