Genetics
intro text about the medical/clinical genetics, its labs, and its offerings.
Written at the provider level.
Testing
Yale University Cytogenetics Laboratory
The Yale University Cytogenetics Laboratory is a CAP and CLIA certified laboratory, providing an array of testing services. Our services include routine chromosome karyotyping, fluorescence in situ hybridization (FISH) and advanced chromosomal microarray diagnostics.
Types of specimens processed include blood, amniotic fluid, chorionic villus, products of conception, bone marrow, skin and solid tumor samples from clinicians as well as various cell lines and tissues from researchers. We provide state-of-the-art services with fast turnaround time and competitive prices.
We offer the following tests:
To request a test, please place the appropriate order in EPIC. For non-Yale providers, please use the applicable form below.
- Cancer Cytogenomics Requisition (link to FORM4010B_May 2021.pdf]
- Constitutional Cytogenomics Requisition (link to FORM4010A_May 2021.pdf]
- Specimen requirement/submission guidelines (link to FORM4100_2021.pdf)
- {Link to modal Products of Conception collection: Products of Conception collection}
Learn more about the Yale Cytogenetics Laboratory in our {link to the modal Cytogenetics FAQ: list of Frequently Asked Questions}.
Yale DNA Diagnostics Lab
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.
We offer the following tests:
- {link to modal EXTENDED GENE ANALYSIS: EXTENDED GENE ANALYSIS}
- {link to modal SINGLE GENE ANALYSIS: SINGLE GENE ANALYSIS}
- {link to modal DNA PREPARATION: DNA PREPARATION}
- {link to modal FRAGILE X: FRAGILE X}
- {link to modal MATERNAL CELL CONTAMINATION: MATERNAL CELL CONTAMINATION}
- {link to modal PRADER-WILLI/ANGELMAN: PRADER-WILLI/ANGELMAN}
- {link to modal UNIPARENTAL DISOMY: UNIPARENTAL DISOMY}
- {link to modal REANALYSIS OF GENE SEQUENCING: REANALYSIS OF GENE SEQUENCING}
- {link to modal MYOTONIC DYSTROPHY: MYOTONIC DYSTROPHY}
- {link to modal MITOCHONDRIAL GENOME ANALYSIS: MITOCHONDRIAL GENOME ANALYSIS}
- {link to modal TUMOR GENOME ANALYSIS: TUMOR GENOME ANALYSIS}
Genomic Testing
New technologies and ongoing genetic discoveries have increased the capability of genetic testing to identify the underlying causes of medical conditions and guide curative and preventive therapies. Taking advantage of these scientific advances, laboratories often test large panels of genes or the whole human genome rather than single genes.
Read more about the {link to the modal DNA Lab reporting results: types of results that may be reported and the possible outcomes of broad genetic testing}.
Read about the {link to the modal DNA Lab limitations: limitations of testing}.
Read about {link to the modal DNA Lab privacy: privacy and risks associated with testing}.
Learn more about the Yale DNA Diagnostics Laboratory in our list of Frequently Asked Questions.
Billing
TK information on the following:
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Contact information for billing team (e.g. Kristi, Anthony)
Resources
TK description.
Include all PDF forms related to the lab (e.g. order forms* make sure they are accessible
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Include a short blurb on testing methodology for each type of test