Chromosome Analysis, Mosaicism
Use
This chromosome study examines 50 metaphase cells—more than the standard 20—to assess constitutional chromosomal mosaicism or chimerism. It detects mosaicism ≥6% at a 95% confidence level, improving sensitivity over standard chromosome analysis procedures.
Special Instructions
Not provided.
Limitations
This assay cannot detect most microdeletion syndromes (e.g., DiGeorge, Prader‑Willi, Angelman, Williams, Smith‑Magenis syndromes), mosaicism below 6% at a 95% confidence level, Fragile X syndrome, single‑gene disorders (e.g., cystic fibrosis, Marfan syndrome, neurofibromatosis), or very small/subtle chromosomal gains, losses, or rearrangements.
Methodology
Chromosomal / Cytogenetics
Biomarkers
Result Turnaround Time
10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
1 mL
Container
sodium heparin (green‑top) tube
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