Additional Information:
UFHPL Test #: 30285
UFHPL Epic order code: LAB5851
CPT Code(s):
- 88271x 2
- 88273
- 88275
- 88291
Specimen Requirements:
- Peripheral Blood: Collect blood aseptically in sodium heparin tubes (usually green-top tubes) and immediately rotate thoroughly to prevent clotting. For infants, obtain approximately 2 cc, and for children and adults, obtain 5 – 7 cc.
- Skin biopsy or Other Tissues: In an aseptic manner, obtain 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 (i.e., lung, cartilage, etc.).
Note: A separate blood sample is required if a concurrent CGH microarray study is desired.
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*
- Frozen: Unacceptable
* Cell viability of specimens requiring cell culture may be compromised in specimens more than 48 hours old upon receipt. Refrigeration at 2° – 8° C may assist when a delay is not preventable. Do not freeze or place specimens directly on ice.
Use:
This test is used to assist in determining sex chromosome constitution in patients suspected to have conditions in which mosaicism is likely (i.e., ambiguous genitalia, Turner syndrome, etc.).
Methodology:
Metaphase and/or chromosome fluorescence in-situ hybridization (FISH) analyses; requires cell culture and a concurrent or previous routine karyotyping
Reported:
10 – 28 days
Reference Values:
By report; interpretive