10-14 days (STAT preliminary verbal result for newborn patients in 3 days with final report in 7 days)
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
88230 x2, 88263 x1, 88291 x1
- Known or suspected mosaic chromosome abnormality
- Ambiguous genitalia
- Short stature
- Suspected Turner syndrome or Klinefelter syndrome
- Delayed onset of puberty
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.