Veripath Test Directory

Epic Test Name FISH, DIGEORGE SYNDROME MICRODELETION
Components
Synonyms FISH, 22q11 mlcrodeletlon
FISH, velocardiofacial syndrome
FISH, Shprintzen syndrome
DIGeorge syndrome microdeletlon FISH
22q11 mlcrodeletlon FISH
Velocardiofacial syndrome FISH
Shprintzen syndrome FISH
Description Fluorescence In Situ Hybridization (FISH) Is performed to detect microdeletlons of chromosome band 22q11.2, as seen In approximately 90% of DIGeorge syndrome, 75% of velo-cardio-facial (Shprlntzen)syndrome and 30% of isolated conotruncal heart defects.
Specimen Requirements 
Container Green top (sodium heparin) collection tube
Specimen Type Blood
Preferred Collection Volume 3 mL
Minimum Collection Volume 2 mL
Collection Instructions Minimum 3 mL aseptically collected blood in a 5 mL green top, sodium heparin tube (or 2 mL pediatric green top, sodium heparin tube). DO NOT use lithium heparin tubes.
Specimen Handling Deliver to lab at room temperature within 24 hours. If collected over a weekend, call the laboratory to make arrangements for specimen delivery. May be refrigerated If not transported immediately. Do not freeze. Protect from heat or cold.
Rejection Criteria
Methodology A cocktail of fluorescent labeled DNA probes for chromosome band 22q11.2 Is hybridized to unstained metaphase chromosomes. Ten cells are evaluated for the presence of 2 signals (normal) or 1 signal (deletion).
Reference Range See interpretive report.
CPT Code(s) 88271, 88273, 88291 (If routine cytogenetics not requested, add 88230)
Department Cytogenetics
Contact Information Cytogenetics Lab: (214) 648-0975, Customer Service: (214) 645-7057 or Toll Free (877) 887-8136
Turn Around Time7-10 days
Performed Sunday - Saturday
Performed by Cytogenetics
Link
Notes Cytogenetics. Blood. Constitutional Karyotyoe must be ordered on the same specimen, unless cytogenetic analysis has been performed on a prior specimen
Updated/Reviewed 12/12/2016


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