Constitutional FISH
Cri-du-Chat (5p-) FISH
Background:
Fluorescent in situ hybridization (FISH) with a probe covering the CTNND2 gene region detects deletion in the Cri-du-chat syndrome critical region of 5p15.2.
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 review of the Cri-du-chat syndrome see Online Mendelian Inheritance in Man (OMIM):
http://www.omim.org/entry/123450
Additional Info: