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Quest Diagnostics

Chromosomal Microarray, POC, ClariSure®, Oligo-SNP

Test code(s) 90929

It is unlikely that the fetus had the known familial finding. However, documentation of the specific genomic alteration in the family will be necessary to determine the accuracy of the testing that was performed on the fetus. Please call 866-GENE-INFO to discuss this case with a genetic counselor.

This assay can detect:

  • Genomic imbalances or segments of homozygosity in cases in which no chromosome analysis was possible due to no growth in culture
  • Trisomies such as Down syndrome, trisomy 18, trisomy 13, trisomy 16, etc.
  • Sex chromosome abnormalities such as Turner and Klinefelter syndromes
  • Most marker chromosomes
  • Mosaicism at a 20% level
  • Small deletions and duplications throughout the genome that are within the resolution of the assay. For more information, please call 866-GENE-INFO to speak with a genetic counselor.

This assay cannot detect:

  • Mosaicism <20%
  • Balanced abnormalities, including Robertsonian translocations, reciprocal translocations, and inversions
  • Fragile X syndrome
  • Single gene disorders such as Marfan syndrome, neurofibromatosis, etc.
  • Deletions and duplications smaller than the resolution of this assay. For more information, please call 866-GENE-INFO to speak with a genetic counselor.

Note: This assay will not distinguish between a normal female fetus and maternal cell contamination.

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

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