According to several population studies, the overall incidence of chromosome abnormalities found in newborns is approximately 1 in 160. These abnormalities include numerical abnormalities in autosomes or sex chromosomes, as well as structural abnormalities (including translocations, inversions, etc.). Though many abnormalities can be identified at birth, some may not be recognized until puberty or adulthood.

Infants less than 6 months of age, and pregnant women will be considered STAT. Additionally, a preliminary 5-cell count verbal report can be requested for infants ONLY (additional fee applies).

Indications for testing:

  • Birth Defects
  • Problems with Growth and/or Development
  • Mental Retardation
  • Stillbirth and Neonatal Death
  • Fertility Problems
  • Family History of Chromosome Abnormalities

*For chromosome analysis specific to neoplasia, please see Leukemic Blood Chromosome Analysis

FISH Analysis can also be performed in conjunction with Blood Chromosome Analysis. Please see the FISH Analysis section for information regarding available FISH probes.

Sample requirements:

  • Adults and children >2 years: 5-8 cc whole blood in green top Sodium Heparin tube.
  • Children < 2 years old: 1-2 cc whole blood in green top Sodium Heparin tub.

Sample handling: Please call 216-983-1134 to arrange for courier pick-up of a local specimen.

Specimens being sent from outside facilities should be packaged according to standard medical safety practices. Please keep at room temperature. The specimen should never be frozen. The specimen should be shipped overnight priority.

Turn Around Time:

  • Verbal Preliminary Report for Infant STATS – 3-4 days
  • STAT Analysis– 7-10 days
  • Routine Analysis– 14-28 days

Cost/CPT Codes:

  • Blood Chromosome Analysis
    88230, 88261, 88280, 88289 = $757.91
  • Verbal Preliminary Report
    99058 = $100.00
  • FISH Probe Analysis
    See list of specific probes at FISH Analysis

Please submit a completed Cyto/Molecular Requisition for each sample.

References: HSU LYF (1998) Prenatal Diagnosis of chromosomal abnormalities through amniocentesis. In Milunsky A (ed) Genetic Disorders and the Fetus, 4th ed. Johns Hopkins Univeristy Press, Baltimore, pp. 179-248.

Nussbaum RL et al. (2001) Priniciples of Clinical Cytogenetics. In Thompson and Thompson Genetics in Medicine, 6th ed. W.B. Saunders Company, Philadelphia, pp. 135-155.