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Although peripheral blood is the most easily obtainable tissue
for chromosome analysis, it is sometimes necessary to study solid
tissue. Indications for obtaining chromosome analysis on solid
tissue include the following:
-
suspicion of chromosome mosaicism - mosaicism may be suspected
based on
previous blood chromosomes or due to phenotypic features
-
blood is not available on the patient, but solid tissue is available
- this may be
the case when studying products of conception and abortus tissue, or when
solid tissue is obtained from surgical or post-mortem procedures
Skin Biopsy
Specimen requirements: Using sterile technique, obtain
a 5 mm biopsy of tissue and place in a sterile tube containing
transport media. If tissue culture media is not available, sterile
solutions such as balanced salt solution may be used. Do not
allow the specimen to come into contact with formalin or other
fixatives as fixed tissue will not grow.
Transport: Specimen should be kept at room temperature.
If specimen is not being immediately transported to the laboratory,
it may be refrigerated; do not freeze. Specimen should
be sent by courier or overnight mail to arrive at the laboratory
within 24 hours.
Analysis: A minimum of 15 cells are counted and 5 cells
are analyzed from G-banded preparations. Hard copies of two karyotypes
and 3 chromosome spreads are retained for documentation.
Report: Results are available in about 10 to 20 days.
The final report is mailed to the referring physician's office.
CPT Codes: 88233, 88262, 88291
Products of Conception
Specimen requirements: Products of conception should
be placed in a sterile container for transport. The specimen
must be kept moist - there is usually sufficient fluid present
to ensure moisture. However, if it is necessary to add a sterile
solution, add tissue culture media or sterile saline, by aseptic
technique. Do not allow the specimen to come into contact
with formalin or other fixatives as fixed tissue will not grow.
Transport: Specimen should be kept at room temperature
if it will be transported immediately. If specimen is not being
immediately transported to the laboratory, it may be refrigerated;
do not freeze. Specimen should be sent by courier or overnight
mail to arrive at the laboratory within 24 hours.
Analysis: A minimum of 15 cells are counted and 5 cells
are analyzed from G-banded preparations. Hard copies of two karyotypes
and 3 chromosome spreads are retained for documentation.
Report: Results are available in about 10 to 20 days.
A report will be mailed. Results may also be faxed, upon request.
CPT Codes: 88233, 88262, 88291
Abortus Tissue
Specimen requirements: Using sterile technique, obtain
a 5 mm biopsy of unmacerated fetal tissue and place in tube containing
transport media. If tissue culture media is not available, sterile
solutions such as balanced salt solution may be used. If fetus
is macerated, fetal tissue may not grow in culture; however,
placental tissue will often be viable beyond the time that fetal
tissue can be successfully cultured. The preferred placental
tissues are fetal membranes or chorionic villi. If fetal samples
are obtained at autopsy, lung, gonad or thymus are preferred
for chromosome study. Do not allow the specimen to come into
contact with formalin or other fixatives as fixed tissue will
not grow.
Transport: Specimen should be kept at room temperature
if it will be transported immediately. If specimen is not being
immediately transported to the laboratory, it may be refrigerated;
do not freeze. Specimen should be sent by courier or overnight
mail to arrive at the laboratory within 24 hours.
Analysis: A minimum of 15 cells are counted and 5 cells
are analyzed from G-banded preparations. Hard copies of two karyotypes
and 3 chromosome spreads are retained for documentation.
Report: Results are available in about 10-20 days. The
final report is mailed to the referring physician's office.
CPT Codes: 88233, 88262, 88291
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