Chromosome Analysis, Blood
Also known as: Karyotype
Use
Quest Diagnostics’ Chromosome Analysis, Blood assay (test code 14596) evaluates constitutional chromosomal abnormalities through culture and microscopic analysis of peripheral blood metaphase cells, detecting numerical abnormalities (e.g., trisomy 21, 18, 13), sex chromosome aneuploidies (e.g., Turner or Klinefelter syndromes), structural rearrangements, marker chromosomes, and mosaicism above approximately 14% at 95% confidence. It does not detect most microdeletion syndromes, low‑level mosaicism below 14%, or single‑gene disorders such as fragile X, cystic fibrosis, Marfan syndrome, or neurofibromatosis.
Special Instructions
Not provided.
Limitations
This assay cannot detect most microdeletion syndromes (e.g., DiGeorge, Prader‑Willi, Angelman, Williams, Smith‑Magenis), mosaicism below approximately 14% (95% confidence level), or single‑gene disorders (e.g., fragile X, cystic fibrosis, Marfan syndrome, neurofibromatosis) ([questdiagnostics.com](https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center/faq/chromsblood?utm_source=openai)).
Methodology
Chromosomal / Cytogenetics (Karyotype)
Biomarkers
Result Turnaround Time
10-12 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
1‑5 mL
Minimum Volume
1 mL
Container
Dark Green (Sodium Heparin) tube
Storage Instructions
Ambient‑Only
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