Our Cytogenetics Lab

Spectrum Health Cytogenetics Laboratory performs more than 3,600 tests annually using a full range of cytogenetic specimens, including blood, bone marrow, solid tumors, amniotic fluid, chorionic villi samples and products of conception. The laboratory is a leader in advanced cytogenetic testing and has the ability to deliver preliminary oncology results within 24 hours. It is certified by Children’s Oncology Group and Southwest Oncology Group for clinical research studies. 

Clinical Applications 

  • Prenatal and postnatal testing for obstetrics and medical genetics patients 
  • Oncologic testing to assist in differential diagnoses of certain lymphomas and leukemias 
  • Oncologic testing to assist in determining prognosis and most appropriate treatment regimens (including personalized targeted therapies) 
  • Microarray genetic testing for constitutional abnormality for postnatal neurology and medical genetics patients 


In addition to standard oncology and constitutional chromosome analysis, the laboratory offers chromosome breakage studies for diagnosing Fanconi anemia. 

The extensive fluorescence in situ hybridization (FISH) probe menu includes, but is not limited to, the following tests: 

  • Comprehensive probe panels for chronic lymphocytic leukemia (CLL), acute b-lymphoblastic leukemia (B-ALL), acute t-lymphoblastic leukemia (T-ALL), acute myeloid leukemia (AML), myelodysplastic syndrome (MDS) and multiple myeloma (MM) with plasma cell detection 
  • Mantle cell lymphoma 
  • ERBB2 (HER-2) amplification in breast tumors 
  • ALK, RET and ROS1 rearrangement and MET amplification in lung adenocarcinomas 
  • Other fixed-tissue tumors 
  • Prenatal screening for major trisomies 
  • Pediatric syndrome deletions/duplications 
  • Fast hybridization FISH for STAT cases (four-hour TAT) 

With more than 44 probes available, deletions, duplications, rearrangements and amplifications are identified at the DNA level to help physicians diagnose and treat a variety of disorders. 

Chromosomal microarray comparative genomic hybridization (ACGH) permits a whole genome survey at very high resolution to detect clinically significant copy number abnormalities in patients with phenotypic features suggestive of a congenital chromosome rearrangement and is currently recommended by the American College of Medical Genetics as a first-tier test for individuals with non-syndromic development delay, intellectual disability, autism spectrum disorder or multiple anomalies not specific to a well-delineated syndrome. 

The single nucleotide polymorphism (SNP) portion of the microarray allows detection of regions with absence of heterozygosity (AOH) with potential clinical significance related to imprinting and recessive disorders resulting from uniparental disomy (UPD) or identity by descent. 

Certification & Accreditation 

The cytogenetics laboratory is certified by the Clinical Laboratory Improvement Amendments (CLIA) for high-complexity clinical testing. It also is accredited by the College of American Pathologists (CAP) to provide general cytogenetic testing. 

The laboratory, founded in 1962, is directed by a board-certified PhD scientist. It is staffed by technologists certified by the American Society of Clinical Pathologists. Staff pathologists are available for clinical consultations.