Additional Information:
UFHPL Test #: 30080
UFHPL Epic order code: LAB5851
CPT Code(s):
- 88271
- 88273
- 88291
Specimen Requirements:
Peripheral Blood: Peripheral blood must be collected aseptically in sodium heparin tubes (usually green-top tubes) and immediately rotated thoroughly to prevent clotting. For infants, obtain approximately 2 cc. Obtain 5 – 7 cc for children and adults.
By report; interpretive
- Unacceptable Conditions:
- Frozen specimens
- Specimens > 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 detect microdeletions or rearrangements involving the distal short-arm region of the Y chromosome, which includes the SRY (sex-determining region) gene locus, and may result in sexual phenotype abnormalities (e.g., XY females, Swyer syndrome, etc.).
Methodology:
Metaphase/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