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.
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
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 | 11502-2 | |||
Order Code | 510100 | |||||
Order Code Name | Prenatal Chromosome Microarray | |||||
Order Loinc | ||||||
Result Code | 510103 | |||||
Result Code Name | Specimen Type | |||||
UofM | ||||||
Result LOINC | 31208-2 | |||||
Order Code | 510100 | |||||
Order Code Name | Prenatal Chromosome Microarray | |||||
Order Loinc | ||||||
Result Code | 510104 | |||||
Result Code Name | # of Genotyping Targets | |||||
UofM | ||||||
Result LOINC | N/A | |||||
Order Code | 510100 | |||||
Order Code Name | Prenatal Chromosome Microarray | |||||
Order Loinc | ||||||
Result Code | 510105 | |||||
Result Code Name | Array Type | |||||
UofM | ||||||
Result LOINC | N/A | |||||
Order Code | 510100 | |||||
Order Code Name | Prenatal Chromosome Microarray | |||||
Order Loinc | ||||||
Result Code | 510106 | |||||
Result Code Name | Diagnosis | |||||
UofM | ||||||
Result LOINC | 48000-4 | |||||
Order Code | 510100 | |||||
Order Code Name | Prenatal Chromosome Microarray | |||||
Order Loinc | ||||||
Result Code | 510107 | |||||
Result Code Name | Interpretation | |||||
UofM | ||||||
Result LOINC | 62365-2 | |||||
Order Code | 510100 | |||||
Order Code Name | Prenatal Chromosome Microarray | |||||
Order Loinc | ||||||
Result Code | 510108 | |||||
Result Code Name | Director Review | |||||
UofM | ||||||
Result LOINC | 48672-0 | |||||
Order Code | 510100 | |||||
Order Code Name | Prenatal Chromosome Microarray | |||||
Order Loinc | ||||||
Result Code | 512123 | |||||
Result Code Name | ||||||
UofM | ||||||
Result LOINC | 11502-2 |