Constitutional FISH
DiGeorge Syndrome (TUPLE1) FISH
Background:
Fluorescent in situ hybridization (FISH) with the TUPLE1 probe and control probe ARSA detects deletion/duplication in the velocardiofacial/DiGeorge syndrome region of 22q11.2.
Methodology:
Slides are prepared per standard protocols. 10 metaphase cells and 50 interphase 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 22q11.2 deletion syndrome clinical and testing review see NCBI GeneReviews: http://www.ncbi.nlm.nih.gov/books/NBK1523/
Additional Info: