|
|
| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
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 adult • 2 mL pediatric
Other Acceptable Specimens
Whole blood collected in: Sodium heparin (royal blue-top) or sodium heparin lead free (tan-top)
Instructions
Diagnostic Test Only. This test will not detect carriers of a Bloom syndrome gene [BLM] mutation.
Clinical history and reason for referral are required with test order.
Specimen viability decreases during transit. Send specimen to testing laboratory for viability determination. Do not freeze. Do not reject.
This test may be canceled and replaced by: Chromosome Analysis, Blood, No Growth code, if the specimen does not yield mitotically active cells for analysis; or with a Cytogenetics Communication, if a communication is required.
Clinical history and reason for referral are required with test order.
Specimen viability decreases during transit. Send specimen to testing laboratory for viability determination. Do not freeze. Do not reject.
This test may be canceled and replaced by: Chromosome Analysis, Blood, No Growth code, if the specimen does not yield mitotically active cells for analysis; or with a Cytogenetics Communication, if a communication is required.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: See Collection Instructions
Refrigerated: See Collection Instructions
Frozen: See Collection Instructions
Refrigerated: See Collection Instructions
Frozen: See Collection Instructions
Methodology
Sister Chromatid Exchange (SCE) • Tissue Culture
Setup Schedule
Set up: Daily; Report available: 14 days
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.
Reference Range
See Laboratory Report
Clinical Significance
This test is performed to detect sister chromatid exchanges (SCEs) in cells from persons with suspected Bloom syndrome. Numbers of SCEs are significantly elevated in Bloom syndrome cells, compared to those in cells from unaffected individuals.
