Veripath Test Directory

Epic Test Name FISH, MILLER-DIEKER SYNDROME MICRODELETION
Components
Synonyms Miller-Dieker Syndrome Microdeletion FISH
Description Fluorescence In Situ Hybridization (FISH) is performed to detect microdeletions of chromosome band 17p13.3, as seen in Miller-Dieker syndrome.
Specimen Requirements 
Container Green (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 Frozen, clotted, hemolyzed or grossly contaminated specimens. Incorrect anticoagulant used.
Methodology A fluorescent labeled DNA probe, LIS1, specific for the critical region of Miller-Dieker 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
Link
Notes 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


Label