SNP Microarray−Prenatal (Reveal®)

CPT 81229
Synonyms
  • aCGH
  • Amniotic Fluid Cultures
  • CGH
  • CVS Cultures
  • Prenatal
  • Reveal
  • SNP
  • SNP Microarray

Test Details

Use

This test will detect chromosomal imbalances that could be associated with developmental delay/congenital anomalies. It provides detection of possible uniparental disomy of any chromosome, the percent and location of homozygosity, including the degree of identity by descent.

Special Instructions

A completed Informed Consent and Prenatal Chromosome SNP Microarray Questionnaire should accompany specimens. Call 800-345-4363 to request the Informed Consent and Questionnaire form. If a chromosome study has been performed, it's recommended that it be included with sample submission.

If prior NIPT studies have been performed, include copy of the report.

If specimens from a twin pregnancy are submitted by request, it can be reported if these are DZ or MZ twins. Concurrent maternal contamination (MCC) Studies (Maternal Cell Contamination [511402]) are recommended. If Direct Amniotic fluid or chorionic villus sample (CVS) submitted, test code will auto change to 510200 Direct Prenatal Microarray test code. If Direct submitted under test code 510200 doesn't meet requirements for Microarray testing, test code will be changed to 510100 and cultures will be needed.

If cultures are needed and performed by Labcorp, additional days will be required to complete testing. A delay notification will be sent to the client if cultures are necessary.

Limitations

This SNP assay does not detect balanced rearrangements, low-level mosaicism (<10%), marker chromosomes that only contain heterochromatin or tetraploidy.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Methodology

SNP microarray analysis is performed using the Cytoscan® HD platform, which uses more than 743,000 SNP probes and 1,953,000 NPCN probes with a median spacing of 0.88 kb.

References

Coppinger J, Alliman S, Lamb A, et al. Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray. Prenatal Diagn. 2009 Dec; 29(12):1156-1166.19795450

Specimen Requirements

Information on collection, storage, and volume

Specimen

Cultured amniotic fluid sample or Chorionic villus sample (CVS) cells. Maternal cell contamination studies are recommended, submit maternal blood (EDTA) using Maternal Cell Contamination [511402].

Volume

Two T-25 flasks of cultured cells

Minimum Volume

One T-25 flask

Container

T-25 flask

Storage Instructions

Maintain specimen at room temperature

Causes for Rejection

Quantity not sufficient for analysis