SNP Microarray (Direct)−Prenatal (Reveal®)

CPT: 81229
Updated on 02/29/2024
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Synonyms

  • Prenatal Reveal®

Special Instructions

For current chromosome analysis, please order Chromosome Analysis, Amniotic Fluid With Reflex to SNP Microarray (Reveal®) [052104]. Chromosome studies are recommended to detect balanced rearrangements that will not be detected by the array.

Pertinent medical findings must accompany the test request form. A complete 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 cell contamination (MCC) studies (Maternal Cell Contamination [511402]) are recommended. If the specimen does not meet minimum DNA quality and quantity requirements, array testing will be performed on cultured material and test number will be updated to SNP Microarray−Prenatal (Reveal®) [510100]. 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. If cultured flasks are submitted under this test number, test number will be changed to 510100.

For current chromosome analysis, please order Chromosome Analysis, Amniotic Fluid With Reflex to SNP Microarray (Reveal®) [052104]. Chromosome studies are recommended to detect balanced rearrangements that will not be detected by the array.

Pertinent medical findings must accompany the test request form. A complete 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 cell contamination (MCC) studies (Maternal Cell Contamination [511402]) are recommended. If the specimen does not meet minimum DNA quality and quantity requirements, array testing will be performed on cultured material and test code will be updated to 510100 Prenatal Chromosome Microarray. 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. If cultured flasks are submitted under this test code, test code will be changed to 510100.

For current chromosome analysis, please order Chromosome Analysis, Amniotic Fluid With Reflex to SNP Microarray (Reveal®) [052104]. Chromosome studies are recommended to detect balanced rearrangements that will not be detected by the array.

Pertinent medical findings must accompany the test request form. A complete 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 cell contamination (MCC) studies (Maternal Cell Contamination [511402]) are recommended. If the specimen does not meet minimum DNA quality and quantity requirements, array testing will be performed on cultured material and test number will be updated to SNP Microarray−Prenatal (Reveal®) [510100]. 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. If cultured flasks are submitted under this test number, test number will be changed to 510100.


Expected Turnaround Time

9 - 13 days


Related Information



Specimen Requirements


Specimen

A minimum of 10 mL plus additional of amniotic fluid for direct array only and GA is >18+ weeks. Minimum 15 mL plus additional for backup for amniotic fluid for direct array only and GA is 15-17 weeks.

If ordered concurrently for chromosomes, a minimum of 25 mL of amniotic fluid is required. Gender by ultrasound is required. Please submit maternal blood (sodium heparin or EDTA) for maternal cell contamination (MCC) studies. CVS: 15 mg or greater.


Volume

10-15 mL amniotic fluid for direct depending on GA and 25 mL for concurrent array and chromosomes.


Minimum Volume

10 mL plus additional for backup for amniotic fluid if direct only and GA is > 18+ weeks. Minimum 15 mL plus additional for backup for amniotic fluid if direct only and GA is 15-17 weeks.


Container

Sterile plastic conical tube


Collection

Discard first 2 mL of fluid aspirated to avoid maternal cell contamination. Specimen is collected in a 20 mL sterile syringe and transferred aseptically to sterile tubes to be transported to LabCorp.


Storage Instructions

Maintain specimen at room temperature.


Causes for Rejection

Quantity not sufficient for analysis (less than 10 mL of amniotic fluid or DNA quantity <20 ng/μL); bloody sample


Test Details


Use

This test detects chromosomal imbalance that could be associated with developmental delay/congenital anomalies. It provides detection of possible uniparental disomy of any chromosome, the percentage 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 more than 743,130 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 more than 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
Wapner R. A multicenter, prospective, masked comparison of chromosomal microarray with standard karyotyping for routine and higher risk prenatal diagnosis. Abstract 1. Am J Ob Gyn Supplement. to Jan 2012.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
510200 Direct Prenatal SNP CMA 510103 Specimen Type 31208-2
510200 Direct Prenatal SNP CMA 510104 # of Genotyping Targets N/A
510200 Direct Prenatal SNP CMA 510105 Array Type N/A
510200 Direct Prenatal SNP CMA 510106 Diagnosis 48000-4
510200 Direct Prenatal SNP CMA 510107 Interpretation 62365-2
510200 Direct Prenatal SNP CMA 510108 Director Review 48672-0
510200 Direct Prenatal SNP CMA 512123 PDF 51967-8

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