Chromosome Study, Blood (Slide Analysis)
Use
This test performs chromosome analysis (karyotype) using microscopy on metaphase cells prepared from cultured whole blood, enabling detection of numerical and structural chromosome abnormalities such as trisomies, sex chromosome disorders, translocations, inversions, marker chromosomes and mosaicism (≥14%), while not detecting microdeletion syndromes (e.g., DiGeorge, Prader‑Willi), low‑level mosaicism, or single‑gene disorders.
Special Instructions
Five G‑banded metaphase slides prepared from Carnoy’s‑fixed cultured whole blood cell pellet on glass slides; prepared unstained slides are required. Transport at room temperature; viability may decline in transit; do not freeze.
Limitations
Cannot detect most microdeletion syndromes (e.g., DiGeorge, Prader‑Willi, Angelman, Williams, Smith‑Magenis), mosaicism below approximately 14% (at 95% confidence), or single‑gene disorders such as fragile X, cystic fibrosis, Marfan syndrome, or neurofibromatosis.
Methodology
Chromosomal / Cytogenetics (Karyotype)
Biomarkers
Result Turnaround Time
25 days
Related Documents
For more information, please review the documents below
Specimen
Tissue
Volume
Not provided
Minimum Volume
Not provided
Container
Glass slide
Collection Instructions
Five G-banded slides prepared from Carnoy's fixed cell pellet of cultured whole blood
Causes for Rejection
Do not freeze; viability decreases during transit
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Send at room temperature; do not freeze |