Cytogenetics is the study of chromosomes that carry genetic information, the basic units of heredity. Chromosome disorders, a major category of genetic disease, are caused by errors in the number or structure in one or more genes, resulting in congenital malformations, developmental delay/intellectual disability, infertility and other abnormalities. In addition to the study of these disorders, cytogenetics has become an important tool in the diagnosis of patients with hematologic/oncologic disorders, and is used for disease classification, treatment decisions, and to monitor disease status and recovery.
The Molecular Cytogenetics Laboratory, a section of the Department of Molecular Pathology, includes staff members with expertise in cytogenetics and molecular genetic pathology. Together with our cytogenetics medical technologists and genetic counselor, this team is committed to providing the highest quality cytogenetic analysis available to complement your clinical practice. Accuracy, quality, reliable turnaround time, expert staff, and genetic counseling are all significant features of our program.
Cytogenetic studies include traditional techniques for neoplastic disorders, solid tumors and congenital disorders. In addition, high-resolution chromosome analysis and fluorescence in situ hybridization (FISH) are available on a variety of specimen types, including peripheral blood, bone marrow and tissue investigations. Chromosomal microarray is the latest technology to be added in our laboratory and is currently offered as a first-tier test in various pediatric indications including multiple congenital anomalies, intellectual disability and autism spectrum disorders.
Tests performed in our laboratory include standard cytogenetic analysis including preparation of karyotypes, metaphase and interphase based fluorescence in situ hybridization (FISH), and high resolution single nucleotide polymorphism oligonucleotide-based array (SNP array) analysis will be available soon.
- Cytogenetics for Neoplastic Disorders.
- Cytogenetics for Congenital Disorders.
- Cytogenetics for Solid Tumors.
Accredited by the College of American Pathologists (CAP) and the American College of Medical Genetics and Genomics (ACMG), we provide the latest technology in molecular cytogenetics. We offer rapid turnaround for results and can further expedite lab tests in medically necessary cases. Our success rates consistently meet or exceed CAP standards.
In addition, our laboratory is at the forefront of developing new assays like spectral karyotyping (SKY) and bringing new tests online. We are a member of the International Collaboration for Clinical Genomics (ICCG), a rapidly growing group of clinical cytogenetics and molecular genetics laboratories committed to improving the quality of patient care related to clinical genetic testing using new molecular cytogenetic technologies. The Molecular Pathology laboratories also function as core facilities for translational molecular research programs and the extraction and storage of DNA and RNA for multiple investigators throughout Cleveland Clinic. We can store and preserve pellets/specimens for future investigations.
The Molecular Cytogenetics Laboratory actively and routinely participates in the training and education of various types of students, medical residents, fellows and house staff to promote proper utilization and interpretation of molecular tests. In a climate of rapidly changing technology and increasing applications of molecular testing, these educational activities are vital to the continued success and innovation in the Cleveland Clinic Laboratories.
Please see the Test Directory for specimen information. If you have a specimen question, contact Laboratory Client Services at 800-628-6816.