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: