Fluorescence In Situ Hybridization for Microdeletions (FISH-DEL)

CPT Code(s)

88271x2, 88273, 88291

Synonym(s)

FISH for Prader-Willi Syndrome / FISH for 22q11.2 microdeletion etc.

Performed

In-House

Methodology

PHA stimulated short-term culture; metaphase cell slide preparation; DNA denaturation with target probe and hybridization followed by post-hybridization wash; DAPI application for fluorescence microscopic analysis of chromosomes; interpretation and report (Peripheral Blood)

In Situ long-term culture; chromosome preparation; DNA denaturation with target probe and hybridization followed by post-hybridization wash; DAPI application for fluorescence microscopic analysis of chromosomes; interpretation and report (Amniotic Fluid / Products of Conception / Skin)

Panel/Profile Components

N/A

Critical Values

N/A

Specimen Collection / Handling Requirements

  1. Peripheral blood collected in green top – sodium heparin tube (Peripheral Blood)
  2. Collected in sterile specimen cup or sterile 15 mL tube with RPMI or sterile saline (Amniotic Fluid / Products of Conception / Skin)
  3. Store and ship at room temperature
  4. Avoid freezing or heating
  5. Ship within 24 hours
  6. Delay > 24 hours – Refrigerate the sample
  7. A complete requisition slip must accompany all specimens and the specimen must be labeled with the patient’s name and identification
  8. ANY SPECIMENS RECEIVED WITHOUT A COMPLETE REQUISTION OR AN UNLABELED SPECIMEN WILL BE REJECTED.
  9. All requisition must have a valid ICD-10 code/clinical indication and must have the name of an authorized Any sample without this information will be rejected.

Minimum Specimen Requirements

Optimal Quantity: 4-5 ml; Minimum Quantity: 1-2 ml (Peripheral Blood) ,Optimal Quantity: 2 cm3; Minimum Quantity: 1 cm3 (Skin)

Turnaround time

Total testing time: 7 days

Communication

  1. Turnaround time non-conformity: Email or call Pathologist on request form to notify them of the
  2. Technical Updates: Email Applicable Laboratory

Quality

QA/Utilization Report