CY Survey Case Submission Guidelines

The CAP/American College of Medical Genetics and Genomics (ACMG) Cytogenetics Committee has developed criteria to evaluate cases for use in a CY Survey.

Use the following criteria when assessing a case for submission and provide all the information outlined. Cases can be submitted electronically.

If a case is chosen for use in a CY Survey, the submitting laboratory will be reimbursed $200.00 for each case.

Submission Criteria

• Select cases that are technically good examples of abnormalities a cytogenetics laboratory might reasonably expect to encounter.
• Complete the Clinical Information Form. The form requires information about the case history and laboratory contact person.
• Submit 8–10 cells with a minimum of 4 per cell line. For each cell, submit:
  • Enhanced karyotype: Each karyotype must show that an overlap is present. Do not overtrim or mirror image chromosomes
  • Unenhanced/raw metaphase
  • Enhanced metaphase. Enhance images should be enhanced prior to chromosome cutting.
    

    Metaphase Guidelines:

    • Must be at least 96 dpi measuring 8 x 6 TIFF images. JPEG images cannot be submitted.
    • No red boundary lines
    • No fused box frames around chromosomes
    • No halos around a chromosome (occurs when a chromosome is enhanced by itself, in karyotype mode)
    • Fuse an entire cell into one frame for both sets of images. The enhanced and raw/unenhanced images need to match.
    • Do not remove debris or nuclei that are close to a chromosome.
• Rename laboratory images with sequential numbers (eg, 1–10).
• Double check that all submitted cells:
  • Are complete
  • Are not in duplicate
  • Are not flipped or rotated
  • Have abnormal chromosomes separated and/or the region of the abnormality is not overlapped
• Every cell should be at the 400-band level or higher.
• Cells should have very few overlaps and, in particular, should not have overlaps in regions critical to characterizing the abnormality.
  • Although it is preferred that cells with triple overlaps not be submitted, if this cannot be avoided, please draw attention to the overlap in your image (eg, draw a box around it).
• Results from other staining techniques can be provided when pertinent and of educational value.
• Cases submitted must be stripped of all patient identifiers, except for a unique laboratory identifier/laboratory name.
• Images should be submitted electronically to Jaimie Halley, CAP Surveys Department at jhalley@cap.org.