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Quest Diagnostics

Chromosome Analysis, Chorionic Villus Sample

Test code(s) 14592

Yes, other studies may be appropriate. Chromosomal Microarray, Prenatal, ClariSure® Oligo-SNP (test code 90927) detects aneuploidies, deletions and duplications below the resolution of chromosome analysis, and long continuous regions of homozygosity. Please contact Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463) to talk to a genetic science specialist and for information on adding this or other available tests.

No, please contact Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463) to talk to a genetic science specialist about appropriate testing based on the specific genetic abnormality in the family history.

This assay rules out

  • Trisomies such as Down syndrome, trisomy 18, and trisomy 13
  • Sex chromosome abnormalities, including Turner syndrome and Klinefelter syndrome
  • Most rearrangements, including Robertsonian translocations and inversions
  • Marker chromosomes
  • Mosaicism above 14% (at a 95% confidence level); if mosaicism is suspected, before sending the specimen, please call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463) to talk with a genetic science specialist to best assure the correct tests are ordered.

This assay cannot detect

  • Most microdeletion syndromes, including DiGeorge, Prader-Willi, Angelman, Williams, and Smith Magenis
  • Mosaicism below 14% (at a 95% confidence level)
  • Fragile X syndrome
  • Single-gene disorders, including cystic fibrosis, Marfan syndrome,  and neurofibromatosis
  • Disorders associated with small cryptic (not microscopically visible) gains or losses or genetic material

If a microdeletion syndrome or mosaicism is suspected, before sending the specimen please call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463) to talk with a genetic science specialist to best assure the correct tests are ordered.

Yes. Maternal Cell Contamination Study, STR Analysis (test code 10262) can be used to test for maternal cell contamination. A maternal blood specimen is needed for this test. Please call Quest Genomics Client Services at 866-GENE-INFO to add a MCC to an existing result.

This FAQ is provided for informational purposes only and is not intended as medical advice. A physician’s test selection and interpretation, diagnosis, and patient management decisions should be based on the physician’s education, clinical expertise, and assessment of the patient.


Document FAQS.76 Version: 2

Version 2 effective 12/01/2023 to present

Version 1 effective 05/21/2015 to 12/01/2023

Version 0 effective 09/12/2012 to 05/20/2015

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