SNP Microarray−Prenatal (Reveal®)

CPT: 81229
Updated on 02/29/2024
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Synonyms

  • aCGH
  • Amniotic Fluid Cultures
  • CGH
  • CVS Cultures
  • Prenatal
  • Reveal
  • SNP
  • SNP Microarray

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 number will auto change to SNP Microarray (Direct)−Prenatal (Reveal®) [510200]. If Direct submitted under test number 510200 doesn't meet requirements for Microarray testing, test number 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.

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.

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 number will auto change to SNP Microarray (Direct)−Prenatal (Reveal®) [510200]. If Direct submitted under test number 510200 doesn't meet requirements for Microarray testing, test number 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.


Expected Turnaround Time

8 - 15 days


Related Information



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

Quantity not sufficient for analysis


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.


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 743,000 SNP probes and 2,029,441 NPCN probes with a median spacing of 0.818 kb.

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.

SNP microarray analysis is performed using the Cytoscan® HD Accel platform, which uses 743,000 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

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 51967-8

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