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Constitutional Chromosome Analysis, Solid Tissue


TEST DIRECTORY
Test Name
Constitutional Chromosome Analysis, Solid Tissue
Alternate Names
POC
Description
Chromosome analysis of solid tissues is performed using standard cytogenetic techniques on any viable solid tissue, including skin and products of conception (POC). Analysis of skin fibroblasts may be indicated when the results from peripheral blood are inconclusive or in clinical circumstances such as suspected cases of chromosome mosaicism and some dermatological disorders. Chromosomal analysis of POC is performed to rule out abnormalities resulting in malformed fetuses, spontaneous abortions, or neonatal deaths. Chromosome studies of POC may provide useful information concerning the cause of miscarriage and, thus, the recurrence risk for pregnancy loss and the risk for having subsequent children with chromosome anomalies.
Test Code
775
SPECIMEN REQUIREMENTS
Specimen
Tissue
Specimen Requirements
Submit at least 5 mm3 of aseptically collected fresh tissue from surgery or autopsy, or a generous 2-mm (minimum) diameter full thickness skin biopsy.
DO NOT send skin from autopsy; kidney, lung, fascia, cartilage and chorionic villi are preferred.
Supplies for Submission
Sterile tissue transport medium
Specimen Collection
  1. Place specimen in 10 mL of sterile tissue culture medium and refrigerate until transported.
  2. Send completed ProPath requisition form with the specimen.
Storage Requirements
Refrigerate specimen until transported. DO NOT freeze. DO NOT put in formalin or other fixative. Transport by courier at room temperature, adding a cold (refrigerator) pack during the summer months.
GENERAL AND TECHNICAL INFORMATION
Turn Around Time
2-3 weeks (depending on the growth rate of the cells)
Limitations
A normal karyotype does not eliminate the possibility of birth defects such as those caused by submicroscopic cytogenetic abnormalities, molecular mutations, and environmental factors (i.e., teratogen exposure).
CPT Code
88233, 88262, 88291.
To rule out mosaicism, add 88263.