Karyotype for mosaicism (pediatric)1

Test #:


Turnaround Time:

10-14 days (STAT preliminary verbal result for newborn patients in 3 days with final report in 7 days)

Specimen Requirements:

Specimens should be shipped at room temperature in a leak-proof, rigid container with overnight delivery. To discuss minimum acceptable specimens for neonatal patients or for sample types not listed, please contact Allele Diagnostics.

  • Peripheral blood: 3-5 mL NaHep
CPT Codes:

88230 x2, 88263 x1, 88291 x1

Ordering Requirements:
Clinical Utility:
    • Known or suspected mosaic chromosome abnormality
    • Ambiguous genitalia
    • Short stature
    • Suspected Turner syndrome or Klinefelter syndrome
    • Delayed onset of puberty
Test Description:

Chromosome analysis by mosaicism karyotype

Karyotype can identify numeric chromosomal abnormalities, large unbalanced and balanced structural abnormalities. Abnormalities larger than approximately 5-10 Mb can be visualized. Karyotype is useful in conjunction with microarray to identify balanced abnormalities, such as translocations and inversions, that microarray is not designed to detect. A blood karyotype study for mosaicism involves counting at least 30 cells, analyzing 5 cells, and karyotyping 3 cells.

  1. This test may be performed at a partner lab of Allele Diagnostics.

  2. Microarray analysis (test 100) may be considered as a first-tier test prior to a karyotype for mosaicism.