Chromosome and Florescence in situ Hybridization Analyses Test Index

Publications by Lab staff members (on PubMed)

The Cytogenetics Laboratory at Mayo Clinic is a leader in the field of cytogenetics. Board-certified laboratory directors and genetic counselors work closely with laboratory staff to ensure that accurate, reliable results are available in a timely manner.

Chromosome disorders form a major category of genetic disease. In a clinical setting, chromosome abnormalities account for a large proportion of patients with congenital malformations, intellectual disability, and infertility or recurrent pregnancy loss.

For patients with hematologic or oncologic malignancies, cytogenetic testing plays a key role in the diagnosis, prognosis, and selection and monitoring of treatment. As tumor markers are identified and targeted therapies are developed, results of testing performed in the Cytogenetics Laboratory are a valuable addition to clinical and pathologic information.

The Cytogenetics Laboratory provides comprehensive testing services including:

• Chromosome analysis for prenatal samples, peripheral blood, bone marrow, lymphomas and solid tumors
• FISH (fluorescence in situ hybridization) assays and many probes that are available only at the Mayo Clinic Cytogenetics Laboratory
• Microarray assays for congenital (pre- and postnatal) disorders

Cytogenetics Laboratory innovations have also led to increased efficiency in the processing of specimens. Additionally, by collaborating with Mayo Clinic hematopathologists, anatomic pathologists as well as hematologists and oncologists, laboratory staff members have developed cost-effective data-driven testing algorithms to optimize test utilization and help individualize patient care.

Please refer to the test listing for specific details for each assay.

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