A scientist wearing protective goggles examines a set of vials

Clinical Genetics

Clinical Lab

The New York Genome Center has a state-of-the-art clinical diagnostic laboratory that utilizes next-generation sequencing technology to perform cutting-edge tests in the areas of genetics and oncology. The Clinical Laboratory is accredited by the Clinical Laboratory Improvement Amendments (CLIA) and the Clinical Laboratory Evaluation Program of the New York State Department of Health (CLEP). It is licensed to perform clinical testing in all fifty (50) of the United States and the District of Columbia. The laboratory participates in the College of American Pathologists (CAP) proficiency testing.

Laboratory Permits and Accreditations

Diagnostic Tests - Oncology

Oncology testing is available for patients with hematological malignancies and solid tumors. Click on the links below for a detailed description of the tests offered. For more information, email clinical@nygenome.org.

The NYGC is the first clinical laboratory offering New York State-approved clinical whole genome and transcriptome tests for cancer.

Whole genome and transcriptome sequencing (WGTS)

Two scientists chat while one adjusts the magnification on a microscope

Diagnostic Tests - Genetic

Genetic testing is available for patients with unexplained medical conditions, as well as for those wanting to know if they are carriers of autosomal recessive (AR) and X-linked disorders. Additionally, this test can identify pharmacogenomic variations that influence how a person reacts to specific medications. Click on the links below for a detailed description of the tests offered. For more information, email clinical@nygenome.org.

The NYGC is the first clinical laboratory offering New York State-approved clinical Genome Sequencing for undiagnosed disease and for predispositional genetic screening.

Standard Genome Sequencing (GS)

Standard genome sequencing is a comprehensive genetic test that involves sequencing of entire genome using high-throughput next-generation DNA sequencing technology. This testing is designed for children or adults with unexplained health issues indicative of a potential genetic origin.
Rapid Genome Sequencing (rGS)

Rapid genome sequencing is the rapid version of genome sequencing with a quicker turn-around time. This test is primarily aimed at fetuses showing abnormal results during prenatal screening and critically ill newborns in the postnatal phase who are suspected to have underlying genetic conditions.
Panel Sequencing (PS)

Panel Sequencing is a test that allows for targeted analysis of specific regions of the genome. Rather than examining the entire genome, this approach concentrates on a select group of genes or specific genomic areas identified through genome sequencing. The creation of a panel is adaptable and is especially valuable in scenarios where certain genetic mutations are linked to specific diseases or conditions.
Targeted Variant Testing (TVT)

This test offers a specialized sequencing service to independently verify results from single gene, panel, exome, and/or genome sequencing conducted for research purposes. It can also be used to ascertain the presence of a known familial mutation.
Small Multiply Aggregated Sequence Homologies (SMASH)

Small Multiply Aggregated Sequence Homologies (SMASH) methodology is a powerful approach to detect small and large copy number variants at a higher resolution than currently available with chromosomal microarray analysis. SMASH is a low-coverage genome sequencing methodology with high sensitivity for copy number variants and can reliably detect genomic imbalances as small as 10kb, and is a test suitable for a variety of undiagnosed disorders with suspected genetic etiologies including intellectual disability, autism, and congenital anomalies.

Collaborative Clinical Sequencing Projects

The NYGC Clinical lab collaborated on the NYCKidSeq project as one of seven clinical sites funded through the National Human Genome Research Institutes Clinical Sequencing Evidence-Generating Research (CSER) program. NYCKidSeq is a clinical trial (NCT03738098) with the goal of assessing the utility of genome sequencing for pediatric disorders in diverse New York City children who are suspected to have undiagnosed neurologic, immunologic, or cardiac genetic disorders. This study demonstrates the power of genome sequencing and its potential to provide higher diagnostic yield than conventional genetic testing in a clinically heterogeneous cohort when used as a first-tier clinical test.

The Clinical Laboratory also worked on a collaboration with Weill Cornell Medical Center to provide constitutional panel testing for the endocrinology, cardiology, and neurology groups as well as whole genome and transcriptome sequencing for their oncology department. This collaboration expanded to the pediatric department in order to provide whole genome sequencing for undiagnosed diseases.

The Clinical Laboratory worked on the Dominant Inherited ALS Network (DIALS) project, in conjunction with the NYGC’s Center for Genomics of Neurodegenerative Disease, Massachusetts General Hospital and Washington University School of Medicine. For this project, the Clinical Laboratory performed constitutional genome sequencing for asymptomatic first-degree adult relatives of people with familial ALS, which runs in families.

The New York Genome Center, in collaboration with Columbia University Irving Medical Center’s OB/GYN Department and New York-Presbyterian Hospital, has launched the Women’s Genetics Center — a pioneering initiative dedicated to revolutionizing women’s healthcare through cutting-edge clinical whole genome sequencing. By harnessing advanced technologies and innovative analytical methods, the Women’s Genetics Center is driving down costs while expanding the horizons of clinical knowledge. This transformative approach is reshaping the landscape of clinical genomics, fostering the widespread adoption of whole genome sequencing as a cornerstone of personalized medicine. With the capability to interpret and reinterpret genomic data throughout a patient’s lifetime, the center ensures that insights evolve alongside advancements in our understanding of the genetic underpinnings of disease and the development of groundbreaking therapeutics.

Custom Clinical Reference Laboratory Genomics Sequencing and/or Bioinformatics Services

Do you need access to next-generation sequencing (NGS) technology but lack the infrastructure to sequence and/or interpret the data yourself?
Our high-quality custom clinical reference laboratory services are here to help. We offer a comprehensive suite of solutions for organizations seeking to:

Implement NGS-based laboratory-developed tests
We can help you develop, validate, and launch your own NGS-based tests, even if you don't have your own sequencing equipment or bioinformatics expertise.
Manage overflow NGS needs
If your in-house NGS capacity is overloaded, we can provide additional sequencing and bioinformatics support to ensure your projects stay on track.
Obtain New York State CLEP approval
Navigating the regulatory landscape for NGS-based diagnostic tests can be complex. We can guide you through the process and help you obtain the necessary approvals.
Enhance your research efforts
We offer CLIA-grade sequencing and bioinformatics services to support your research projects, ensuring the highest quality data and compliance with regulatory standards.
Fulfill other NGS and bioinformatics requirements
Whether you need help with data analysis, interpretation, or simply need access to expert resources, we can tailor our services to meet your specific needs.

Benefits of Partnering with Us

High-quality, CLIA-certified services
Our state-of-the-art laboratory and experienced team ensure the accuracy and reliability of your results.
Customizable solutions
We work closely with you to develop a service package that meets your unique requirements and budget.
Expert support
Our team of Ph.D.-level scientists and bioinformaticians has extensive experience in NGS technology and applications.
Streamlined workflows
We integrate seamlessly with your existing processes to ensure efficient sample processing and data delivery.
Focus on your core business
By outsourcing your NGS needs, you can free up valuable resources to focus on your core activities.