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Rule out Mosaicism Chromosome Analysis, Peripheral Blood

New York


  • Chromosome Abnormalities (Must indicate suspected mosaic chromosomal abnormality)

Clinical Utility

  • For peripheral blood samples
    • Multiple congenital abnormalities with or without mental retardation/developmental delay
    • Family history of chromosome abnormality
    • Infertility
    • Short stature
    • Recurrent spontaneous abortions
    • Suspicion of chromosomal mosaicism based upon prior karyotype or chromosomal microarray result.
  • Rule out mosaicism.

Lab Method

  • Karyotype with 30 additional metaphases counted (50 total)

Test Code


CPT Codes*

88230x1, 88263x1

ABN Required


Turnaround Time**

1-2 weeks

Preferred Specimen

2-5 mL Blood-Sodium Heparin, Green Top Tube. Please note that samples received greater than 7 days after collection will be rejected and not used for analysis.

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.