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Chromosome Analysis, Sister Chromatid Exchange (SCE) Assay for Bloom Syndrome
Test Code14599
CPT Codes
88230, 88245
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
10 mL whole blood collected in a sodium heparin (green-top) tube
Infants: 3 mL whole blood collected in a pediatric (3 mL) Vacutainer®
Infants: 3 mL whole blood collected in a pediatric (3 mL) Vacutainer®
Minimum Volume
5 mL • Infants: 2 mL
Other Acceptable Specimens
Sodium heparin (royal blue-top) tube • Sodium heparin lead free (tan-top) tube
Instructions
Clinical history and reason for referral are required with test order
Transport Temperature
Room temperature
Specimen Stability
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Methodology
Sister Chromatid Exchange (SCE) • Tissue Culture
Setup Schedule
Sets up 6 days a week.
Limitations
This test will reliably detect affected individuals but is not an appropriate test for unaffected carriers. This test does not rule out numeric or structural chromosomal abnormalities nor will it rule out the possibility of birth defects such as those caused by chromosome abnormalities, mutations in other genes important in development, and environmental or in-utero exposures.
Clinical Significance
Sister Chromatid Exchange (SCE) analysis is used for the laboratory diagnosis of Bloom syndrome. Patients have an increased level of SCEs. Bloom syndrome is an autosomal recessive disease, associated with a high frequency of chromosome breaks in cultured cells. Patients are predisposed to malignancy, pigmentation abnormalities of the skin, immunological deficiencies, and other medical conditions. Short stature is a consistent finding.
