Karyotype for mosaicism (pediatric)1
Test #:
204
Turnaround Time:
10-14 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
- Cord blood: 2-3 mL NaHep
CPT Codes:
88230 x2, 88263 x1, 88291 x1
Ordering Requirements:
Clinical Utility:
- Ambiguous genitalia2
- Delayed onset of puberty
- Short stature
- Suspected Turner syndrome or Klinefelter syndrome
- Known or suspected mosaic chromosome abnormality
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.2