• Test Code:
    8772
  • Department:
    Constitutional FISH
  • Test Synonyms:
    del(Y)(p11.3) • gonadal dysgenesis • sex reversal
  • CPT Code(s):
    88271 • 88275
Background:

Fluorescent in situ hybridization (FISH) with the SRY (sex reversal Y) probe detects deletion in Yp11.3 that may be related to gonadal dysgenesis or sex reversal.

Methodology:

Slides are prepared per standard protocols. 10 metaphase cells are scored per probe.  This FISH test is used as a supplement to standard G-banded chromosome analysis.

Specimen Requirements:

Blood:  

  • Adult - 3-5 mL drawn into a GREEN top sodium heparin vacutainer tube or into a pre-heparinized plastic syringe (use 0.2 cc sodium heparin, 1000 unit/mL).  Do NOT use lithium heparin.
  • Child - 1-2 mL, as above.
  • Infant - 1-2 mL, as above. 
  • Keep at room temperature and transport to laboratory as soon as possible.
  • Contact Client Services at (855) 535-1522 for supplies and instructions.

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Mon - Sat

Turn Around Time:

5-12 days: Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number and type of tests performed.

Shipment Sensitivity Requirements:

  • Keep specimen at room temperature during transit. 
  • Do not use the cold pack provided in the KDL shipping kit. 
  • Ship the specimen overnight express, using the FedEx priority overnight label provided. 
  • The specimen must arrive at the lab no more than 24 hours after collection.

References:

For clinical and testing reviews of SRY deletion in sex development see NCBI GeneReviews:
http://www.ncbi.nlm.nih.gov/books/NBK1416/

Additional Info:

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