CHROMOSOME ANALYSIS:

SKIN, PRODUCTS OF CONCEPTION, FETAL DEMISE

Standard chromosome analysis of skin or other tissues when necessary to assess the degree of mosaicism detected from blood studies or to otherwise confirm findings in peripheral blood. Standard chromosome analysis of products of conception and fetal demise specimens to detect chromosomal causes of fetal loss. Banding level 400-550; 2 banded karyotypes, analysis of 20 metaphases (45 or more in mosaic cases).

REASONS FOR REFERRAL

·     Evaluation of possible tissue-specific variation in cases of chromosomal mosaicism determined from peripheral blood lymphocytes.

·     After a fetal demise or a miscarriage to rule out constitutional chromosome abnormalities

TESTING METHODOLOGY

·      Cells cultured as (1) colonies on cover glasses and (2) as monolayers in T-type flasks.

SPECIMEN REQUIREMENTS

• Tissue: 3mm biopsy in sterile tissue culture media or sterile saline

• Demise: samples of skin, cord or placenta in sterile media or sterile saline; a placental sample from the membrane side for isolation of chorionic villi is most likely to give results.

• A Cytogenetic Laboratory Test Requisition must accompany the specimen. For shipping and handling information, refer to Cytogenetic Specimen Instructions.

TURNAROUND TIME: 14 to 24 days

CPT CODES: 88233, 88262, 88263 (mosaicism), 88291