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CTI
8425
TUMOR
80258
could indicate exposure to a toxic substance. Therefore, clinical correlation is required. A normal result
does not rule out the possibility of birth defects, such as those caused by chromosomal abnormalities,
molecular mutations, and environmental factors (ie, teratogen exposure). The test does not rule out other
numeric or structural abnormalities. If a constitutional chromosome abnormality is suspected, a separate
conventional cytogenetic study, CMS/8696 Chromosome Analysis, for Congenital Disorders, Blood
should be requested.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Dicken CH, Dewald G, Gordon H: Sister chromatid exchanges in Bloom's
syndrome. Arch Dermatol 1978:114;755-760 2. Kato H: Spontaneous sister chromatid exchanges detected
by BUdR-labelling method. Nature 1974:251;70-72 3. Korenberg JR, Freedlender EF: Giemsa technique
for the detection of sister chromatid exchanges. Chromosoma 1974:48;355-360 4. Latt SA:
Microflurometric analysis of deoxyribonucleic acid replication kinetics and sister chromatid exchanges in
human chromosomes. J Histochem Cytochem 1974:22;478-491 5. Perry P, Wolff S: New Giemsa method
for the differential staining of sister chromatids. Nature 1974:251;156-158
Chromosome Analysis, Skin Biopsy
Clinical Information: Chromosomal abnormalities cause a wide range of disorders associated with
birth defects and congenital diseases. Usually, the abnormalities can be demonstrated in peripheral blood,
which is readily available. Chromosome analysis on skin fibroblasts may be indicated when the results
from peripheral blood are inconclusive or in clinical circumstances such as suspected cases of
chromosome mosaicism, confirmation of new chromosome disorders, or some dermatological disorders.
Useful For: Second-tier testing for chromosomal abnormalities Follow-up testing when results from
peripheral blood are inconclusive Chromosomal analysis when a peripheral blood specimen is of poor
quality or sampling is not possible
Interpretation: When interpreting results, the following factors need to be considered: -Some
chromosome abnormalities are balanced (no apparent gain or loss of genetic material) and may not be
associated with birth defects. However, balanced abnormalities often cause infertility and, when inherited
in an unbalanced fashion, may result in birth defects in the offspring. -A normal karyotype (46,XX or
46,XY with no apparent chromosome abnormality) does not eliminate the possibility of birth defects such
as those caused by submicroscopic cytogenetic abnormalities, molecular mutations, and environmental
factors (ie, teratogen exposure). It is recommended that a qualified professional in Medical Genetics
communicate all results to the patient.
Reference Values:
46,XX or 46,XY. No apparent chromosome abnormality.
An interpretative report will be provided.
Clinical References: Spurbeck JL, Carlson RO, Allen JE, Dewald GW: Culturing and robotic
harvesting of bone marrow, lymph nodes, peripheral blood, fibroblasts, and solid tumors with in situ
techniques. Cancer Genet Cytogenet 1988;32:59-66
Chromosome Analysis, Solid Tumors
Clinical Information: Most malignant neoplasms are associated with clonal genetic abnormalities
and the observation of an abnormal cytogenetic clone is consistent with a neoplasm. In many instances,
these abnormalities can be demonstrated by cytogenetic analysis. Some physicians now consider
cytogenetic analysis a useful laboratory test to determine the neoplastic potential of solid tumors. For
some tumors, cytogenetic analysis can help classify solid tumors. For example, an X;18 translocation has
been specifically associated with synovial sarcoma, many alveolar rhabdomyosarcomas have an
associated 2;13 translocation, and nearly every myxoid liposarcoma has a 12;16 translocation. A complete
summary of the correlation between tumor histology and specific chromosome anomalies is too extensive
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