Veripath Test Directory

Synonyms Angelman Syndrome Microdeletion FISH
Description Fluorescence In Situ Hybridization (FISH) is performed to detect microdeletions of chromosome 15 at band 15q11.2-q13, as seen in about
70% of patients with Angelman syndrome. Other causes of Angelman syndrome, such as paternal uniparental dlsomy, genetic imprinting abnormalities or mutations in the UBE3A gene will not be detected.
Specimen Requirements 
Container Green top (sodium heparin) collection tube
Specimen Type Blood
Preferred Collection Volume 3 mL
Minimum Collection Volume 3 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 Frozen, clotted, hemolyzed or grossly contaminated specimens. Incorrect anticoagulant used.
Methodology A fluorescentt labeled DNA probe for UBE3A, the critical gene implicated in Angelman syndrome, 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
Notes Note: Cytogenetics, Blood. Constitutional Karyotype must be ordered on the same specimen, unless cytogenetic analysis has been performed on a prior specimen
Updated/Reviewed 12/12/2016