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The Yale University DNA Diagnostics Laboratory is a College of American Pathologists and CLIA certified laboratory with decades of experience in the molecular diagnosis of genetic disease. We provide testing for cancer predisposition, metabolic, and developmental disorders.

Our laboratory provides molecular diagnostic testing for a variety of genetic diseases. As technology progresses, our goal is to provide comprehensive testing by phenotype, i.e., to offer complete molecular testing for a given genetic disease state. In this way, more patients will receive the best care possible based on their unique genetic makeup.

Learn more about the Yale DNA Diagnostics Laboratory in our list of Frequently Asked Questions.


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We offer the following tests:

Extended Gene Analysis


Single Gene Analysis


DNA Preparation


Fragile X


Maternal Cell Contamination




Uniparental Disomy


Reanalysis of Gene Sequencing


Myotonic Dystrophy


Mitochondrial Genome Analysis


Tumor Genome Analysis


Genomic Testing

The genomic testing that your health care provider has ordered is for clinical purposes and is not a research study. Consent is not required for clinical testing, but your health care provider may wish for you to sign a form indicating that you received the information.

Reporting of Results

The key information in a genetic test report is a list of "genetic variants" with an assessment of the medical implications for each variant. Variants are classified as follows:

PATHOGENIC (positive report): This variant is causing the patient's medical condition or predicts that the patient has an increased risk for developing a medical condition in the future. This type of genetic test result can be used in clinical decision-making.

LIKELY PATHOGENIC (qualified positive report): Sufficient evidence exists to justify using the genetic test result in clinical decision-making when combined with other evidence for the disease in question (e.g., X-ray studies or other laboratory tests). 

NO VARIANTS REPORTED (negative report): No genetic changes were found to explain the patient's medical condition. This result reduces but does not eliminate the possibility that the medical condition has a genetic basis. Additional testing or later re-analysis of the data from the current test at a later date may be indicated.

VARIANT OF UNCERTAIN SIGNIFICANCE: Variant for which current information is insufficient to determine pathogenicity. A substantial proportion of variants of uncertain significance prove to be benign as more data become available. 

Other types of testing, such as X-ray studies or testing additional family members, may be helpful.

Incidental Findings

Because a large number of genes are examined in genetic panel testing, this analysis may uncover a different genetic disorder from the medical condition that was being tested.

Genetic disorders that can be treated ("actionable incidental findings") are reported, following the standards of care recommended by medical societies. Most often incidental findings relate to treatable heart conditions or treatable conditions that might increase the risk of cancer.  Incidental genetic findings are less common than incidental findings in many other routine medical tests, such as CT scans and MRIs.

Some patients have concerns about learning of incidental findings. More focused genetic testing, such as single gene analysis, may be appropriate in these cases, but patients and health care providers should be aware that broad genetic testing is often more accurate.

Limitations of testing

As with any medical test, infrequent errors may occur in specimen labelling or laboratory processing. The rate of errors related to specimen handling is estimated from validation studies to be less than 1%. Although the sensitivity of this assay to detect typical disease-related variants is very high, failure to detect certain types of genetic alterations may result from technical limitations in DNA sequencing and computer-assisted analysis. False positive results are very infrequent (<1%) because of independent confirmation of all reported genetic variants.

Privacy and Risks

Clinical reports are confidential and are protected by privacy laws. Reports are released only to the healthcare providers listed on the test requisition form and to other medical professionals with the explicit written consent of the patient. Patients are entitled to a copy of their results, which can be requested with the same type of written consent for release of records. 

Health insurers typically have access to genetic test results for which a patient is covered, and there may be concerns of discrimination. The Genetic Information Nondiscrimination Act provides some protections against genetic discrimination by health insurers and employers but does not protect against discrimination in life, disability, and long-term care insurance. The military may use genetic information to determine fitness for duty.