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Laboratory Test Directory

FISH Analysis (Updated)

Components

Name Method Department Units
FISH Analysis Only Fluorescence in situ hybridization (FISH)
Cytogenetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Preferred

Green tube (Sodium heparin), No Gel

10 mL 3 mL-10 mL
Preferred

Green tube (Sodium heparin), No Gel

3 mL 3 mL-5 mL
Preferred

Green tube (Sodium heparin), No Gel

3 mL 1 mL-3 mL
Stability

Room temperature - 48 hour(s)

Specimen Preparation

  • Do not centrifuge
  • Do not freeze
  • Keep at room temperature

Reasons for Rejection

  • Wrong collection tube
  • Frozen specimen
  • Centrifuged specimen
  • Serum sample
  • Clotted specimen

Comments

Submission of a completed Genetics Test Requisition Form is required -- pease specify which syndrome is suspected or which chromosome region/locus/probe is requested for FISH analysis. If no specific syndrome or chromosome rearrangement is in question, then chromososomal microarray analysis should be ordered instead of this testing (see test code: SNPMA). Call Cytogenetics Lab at (614) 722-5321 with questions or to perform testing on tissue types other than blood sample. If chromosome rearrangement is in question, then high resolution chromosome analysis (test code: PBCS) may be recommended to be performed in conjunction with this testing.

Collect whole blood sample in sodium heparin tube (dark green-top tube without gel separator). Do NOT use lithium heparin or other types of heparin tubes; check tube for proper heparin type. FISH analysis will be performed on metaphase cells from cultured blood lymphocytes and specific FISH probe required for the study may need to be ordered from an outside vendor; therefore, FISH result from this testing typically takes 3 weeks.

This test uses fluorescence in situ hybridization (FISH) probe specific for a chromosome region in question to assess the presence/absence and copy number of the chromosome region in the patient. This FISH analysis is used to test for:

  • Common chromosome microdeletion/microduplication syndromes such as DiGeorge/Velocardiofacial (22q11.2 deletion) syndrome, Williams syndrome, Prader-Willi syndrome, Angelman syndrome, Smith-Magenis syndrome, Miller-Dieker syndrome, Kallmann syndrome, Wolf-Hirschhorn syndrome, Cri-du-Chat syndrome,and steroid sulfatase deficiency (X-linked ichthyosis) STS deletion.
  • Presence or absence of the SRY gene (male sex determining gene) in patients with ambiguous genitalia who had an apparently normal karyotype.
  • Specialized FISH Analysis includes centromere FISH for a specific chromosome, telomere FISH for a specific chromosome, and locus-specific FISH for examination of mosaicism, marker chromosome identification, confirmation of chromosome rearrangements (e.g. translocations, inversions, and insertions), and testing for known familial chromosome rearrangements.

Forms

Lab Form

CPT Code

  • 88273
  • 88271
  • 88230