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SNP Microarray−Prenatal (Reveal®)

CPT

81229

Synonyms
  • Prenatal Reveal®
  • Reveal
  • SNP
  • SNP Microarray

Test Details

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.

Result Turnaround Time

10 - 21 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Information

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.

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

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.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
510100 Prenatal Chromosome Microarray 510103 Specimen Type 31208-2
510100 Prenatal Chromosome Microarray 510104 # of Genotyping Targets N/A
510100 Prenatal Chromosome Microarray 510105 Array Type N/A
510100 Prenatal Chromosome Microarray 510106 Diagnosis 48000-4
510100 Prenatal Chromosome Microarray 510107 Interpretation 62365-2
510100 Prenatal Chromosome Microarray 510108 Director Review 48672-0
510100 Prenatal Chromosome Microarray 512123 PDF 11502-2
Order Code510100
Order Code NamePrenatal Chromosome Microarray
Order Loinc
Result Code510103
Result Code NameSpecimen Type
UofM
Result LOINC31208-2
Order Code510100
Order Code NamePrenatal Chromosome Microarray
Order Loinc
Result Code510104
Result Code Name# of Genotyping Targets
UofM
Result LOINCN/A
Order Code510100
Order Code NamePrenatal Chromosome Microarray
Order Loinc
Result Code510105
Result Code NameArray Type
UofM
Result LOINCN/A
Order Code510100
Order Code NamePrenatal Chromosome Microarray
Order Loinc
Result Code510106
Result Code NameDiagnosis
UofM
Result LOINC48000-4
Order Code510100
Order Code NamePrenatal Chromosome Microarray
Order Loinc
Result Code510107
Result Code NameInterpretation
UofM
Result LOINC62365-2
Order Code510100
Order Code NamePrenatal Chromosome Microarray
Order Loinc
Result Code510108
Result Code NameDirector Review
UofM
Result LOINC48672-0
Order Code510100
Order Code NamePrenatal Chromosome Microarray
Order Loinc
Result Code512123
Result Code NamePDF
UofM
Result LOINC11502-2