Chromosome Analysis — Tissue
Also known as: Karyotype
Use
Chromosome analysis of tissue specimens (e.g., skin biopsy or other solid tissue) is indicated when peripheral blood specimens are inconclusive, of poor quality, or when there is suspicion for mosaicism. It enables detection of numerical and structural chromosomal abnormalities including translocations, duplications, deletions, inversions, marker chromosomes, and mosaicism, aiding in precise cytogenetic diagnosis.
Special Instructions
Specimens such as sterile skin punch or surgical tissue in transport media should be collected aseptically. Frozen or formalin-fixed specimens are unacceptable. A sterile screw-top container with transport media may be provided by the laboratory upon request.
Limitations
Not provided.
Methodology
Chromosomal / Cytogenetics
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Tissue
Volume
3–10 mm3 skin biopsy (aseptically in sterile, screw‑top container with sterile transport media)
Minimum Volume
Not provided
Container
sterile screw‑top container with sterile transport media
Collection Instructions
Skin punch/surgical specimen aseptically in sterile container filled with sterile transport media (provided upon request)
Patient Preparation
None
Storage Instructions
Refrigerate in transport media or sterile container with media; do not freeze or fix in formalin
Causes for Rejection
Frozen or formalin‑fixed specimens are unacceptable
Other tests from different labs that may be relevant