Chromosome Study: Solid Tissue (for Constitutional Congenital Studies)

Additional Information:

UFHPL Epic order code: LAB5851

CPT Code(s):

  • 88271
  • 88273
  • 88291

Specimen Requirements:

Skin (or Other Tissues) Biopsy: In an aseptic manner, obtain a specimen (approximately 2 mm x 2 mm), which is deep enough to ensure that the dermal layer is included. Deposit the specimen in a sterile container containing tissue culture medium with antibiotics, which has been brought to room temperature prior to collection.* Alternate solid tissue samples include autopsy specimens (e.g., lung, cartilage, etc.).

Do not freeze or fix samples in any manner contrary to the maintenance of cell viability. Maintain sample sterility; keep all specimens at room temperature; and deliver samples to the laboratory within 24 – 48 hours. Ship specimens at room temperature for overnight delivery.

Unacceptable Conditions:

  • Frozen specimens
  • Specimens greater than 48 hours old*

Stability (collection to initiation of testing):

  • Ambient: 24 – 48 hours old*
  • Frozen: Unacceptable

* Cell viability of specimens requiring cell culture may be compromised in specimens greater than 48 hours old upon receipt. Refrigeration at 2° – 8° C may assist when a delay in delivery is unpreventable. Do not freeze or place specimens directly on ice.


This test is used to assess the karyotypic status in individuals suspected to have a congenital or constitutional chromosome abnormality, which is not expected to be detected in peripheral blood (e.g., Pallister-Killian syndrome, trisomy 8, low-level mosaicisms, etc.) or where peripheral blood is not available (e.g., autopsy specimens).


Classic cytogenetic G-band analysis (karyotyping); requires cell culture


14 – 28 days

Reference Values:

By report; interpretive