SNP Microarray−Prenatal (Reveal®)

CPT 81229
Synonyms
  • Prenatal Reveal®
  • Reveal
  • SNP
  • SNP Microarray

Test Details

Turnaround Time

10 - 21 days

8 - 15 days

10 - 21 days

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 is recommended that it be included with sample submission. If prior Cell-free DNA/NIPT studies have been performed, include a copy of the report.


Concurrent maternal contamination (MCC) Studies (Maternal Cell Contamination [511402]) are recommended. If direct amniotic fluid or chorionic villus samples (CVS) are submitted, test number will be changed to SNP Microarray (Direct)−Prenatal (Reveal®) [510200]. If direct submitted under Test No. 510200 doesn't meet requirements for microarray testing, test number will be changed to 510100 and cultures will be needed. Due to the nature of the culture process, an additional 2-3 weeks will be needed for culture growth before the sample can be shared for microarray 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 Accel platform, which uses 743,130 SNP probes and 2,029,441 NPCN probes with a median spacing of 0.818 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

Upon receipt, suitability of specimen will be determined by the Cytogenetics laboratory.