Chromosome Analysis, Instability Syndrome

TEST: 511045
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CPT: Contact CPT coding department at 800-222-7566, ext 6-8400.
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Test Includes

Specific instability testing (see Methodology); G-banded chromosome analysis

Expected Turnaround Time

13 - 18 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Information

Related Documents

Specimen Requirements

Specimen

Whole blood

Volume

1 to 4 mL

Container

Green-top (heparin) tube

Causes for Rejection

Hemolysis; clotted specimen; specimen over 48 hours old

Test Details

Use

Chromosome analysis with DEB-induced breakage to assist in the diagnosis of Fanconi anemia (FA).

Methodology

Spontaneous and induced (DEB/mitomycin C) chromosome breakage rate increase

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
511045 Chromosome, Instability Syn 511008 Specimen Type 31208-2
511045 Chromosome, Instability Syn 511009 Cells Counted 62361-1
511045 Chromosome, Instability Syn 511013 Cells Analyzed 62360-3
511045 Chromosome, Instability Syn 511016 Cells Karyotyped 55199-4
511045 Chromosome, Instability Syn 511017 GTG Band Resolution Achieved 62358-7
511045 Chromosome, Instability Syn 511018 Cytogenetic Result 29770-5
511045 Chromosome, Instability Syn 511019 Interpretation 62365-2
511045 Chromosome, Instability Syn 511021 Director Review: 48672-0
511045 Chromosome, Instability Syn 512123 PDF 51967-8

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