Blood Chromosome Analysis

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.

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 (BCA).

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

Sample Requirements

• Adults and children greater than 2 years: 5 to 8 cc whole blood in green top sodium heparin tube.
• Children less than 2 years old: 1 to 2 cc whole blood in green top sodium heparin tub.

Sample Handling

Sample should be kept at room temperature. The sample should never be frozen. Do not delay in shipping as delay may affect results. For optimal results, fresh specimens should be shipped on the day of collection.

Specimens being sent from outside facilities should be packaged according to standard medical safety practices. The specimen should be shipped by overnight priority [scheduled to arrive by Friday AM at the latest].

Shipping Address:

Center for Human Genetics Laboratory

10524 Euclid Ave, 6th Floor

Cleveland, OH 44106

(216) 983-1134

For local samples, please call the Center for Human Genetics Laboratory (216-983-1134) to arrange for sample pick-up.

Turn Around Time

• Verbal Preliminary Report for Infant STATS: three to four days
• STAT Analysis: seven days
• Routine Analysis: 14 to 28 days

Cost/CPT Codes

• Blood Chromosome Analysis 88230x2, 88261, 88280, 88289 = $1007.91
• Verbal Preliminary Report 99058 = $100.00
• FISH Probe Analysis; Contact lab to discuss availability of specific probes

Please submit a completed Prenatal and Postnatal Cytogenetics and Molecular specimens 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 University Press, Baltimore, pp. 179-248.

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