Spectral Karyotyping (SKY)

SKY (24 color FISH) analysis of metaphase chromosome preparations of human or mouse cells. Assay performed by clinically certified cytogenetic technologists and reviewed by an ABMG-certified director, with results available in 10-15 days.

What it detects:

  • Microscopic (>5-10 Mb) genomic abnormalities
    • Balanced and unbalanced translocations
    • Aneuploidies

What it doesn’t detect:

  • Submicroscopic abnormalities (<5Mb genomic abnormalities)
  • Inversions
  • Duplications/deletions

When to use:

  • As an adjunct to g-banded karyotyping
    • To define complex rearrangements
    • To identify marker chromosomes
  • When publication-quality spectral karyotypes are needed
Abnormal spectral karyotype of a four-way translocation.

Abnormal spectral karyotype of a four-way translocation.