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.