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Skin Biopsy

Description
Includes culture of skin fibroblasts and preparation of Giemsa-banded chromosomes. Chromosome analysis includes two banded karyotypes, detailed examination of ten cells, and 20 cells total counted.

Indications
Analysis of skin fibroblast chromosomes can be helpful to look for evidence of chromosomal mosaicism or to show that a suspected acquired chromosome abnormality is not constitutional. Cultured skin fibroblasts can also be used for special biochemical or molecular analyses as indicated by the clinical situation.

Specimen Requirements
A 3 or 4 mm diameter full-thickness punch biopsy obtained under sterile conditions and placed in sterile tissue culture transport media in a sterile screw-top tube. Culture media is supplied by GLG. May be refrigerated overnight. Specimen cannot be frozen. Label tube with patient's name and laboratory control number. Skin samples obtained at the time of a surgical procedure need not be a punch of skin. A small full-thickness slice of skin from the surgical incision site works well. Send specimen to Great Lakes Genetics within 24 hours of collection.

Reference Value
46,XX or 46,XY

Turn Around Time
7-21 days (generally 14 days)

CPT Codes
88262 - chromosome analysis, skin biopsy
88233 - tissue culture for chromosome analysis