KNIGHT DIAGNOSTIC LABORATORIES
Laboratory Shipping Address: 2525 SW 3rd. Avenue, Suite 350 Portland, OR 97201
Correspondence Address: 3181 SW Sam Jackson Park Road, Mailstop MP-350 Portland, OR 97239
Phone: 855-KDL-1LAB (535-1522) - Fax: 855-KDL-1FAX (535-1329)
  • Test Code:
    7900
  • Department:
    Constitutional FISH
  • Test Synonyms:
    del(7)(q31) • ELN
  • CPT Code(s):
    88271 • 88275
Background:

Fluorescent in situ hybridization (FISH) with the ELN (elastin gene) probe detects deletion in the Williams syndrome region of 7q31.

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:

3 - 7 days

Shipment Sensitivity Requirements:

Ship via overnight express, using the FedEx priority overnight label provided.  Use cold pack to keep specimens cool but not frozen.  Contact Client Services at (855) 535-1522 for shipping kits and instructions.

References:

For Williams syndrome clinical and testing review see NCBI GeneReviews:
http://www.ncbi.nlm.nih.gov/books/NBK1249/

Additional Info:

Molecular Diagnostics CLIA #38D0881787 Translational Research Lab CLIA #38D2018256 Q11-TSD-100.01