FISH Study: Microdeletion Metaphase - SRY Sex Determination (Yp11.3)

Metaphase/Chromosome fluorescence in-situ hybridization (FISH) analyses; requires cell culture and a concurrent or previous routine karyotyping
Monday - Saturday
10 - 28 days

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.).

Interpretive report
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.

Reference Values: 

By report; interpretive

CPT Code (s): 
  • 88271
  • 88273
  • 88291

UFHPL Test #: 30080

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