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 x1, 88261 x1, 88291 x1
- Testing parent of a proband with a known chromosomal abnormality visible by karyotype to determine inheritance and/or recurrence risks for family.
- Testing a sibling or other family member of a proband with a known chromosomal abnormality visible by karyotype.
Chromosome analysis by 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 or may be utilized in a family with a known abnormality that is visible by karyotype. This abbreviated blood karyotype study involves counting and analyzing 5 cells and karyotyping 3 cells. This karyotype study is not designed to rule out mosaicism, however, additional cells may be evaluated as indicated if mosaicism is suspected.