Chromosome Study: Solid Tissue (for Constitutional Congenital Studies)
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.
- 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 - 21 days
By report; interpretive
Monday - Saturday