Test Details
Methodology
SNP Microarray analysis is performed using the Oncoscan® FFPE platform, which uses more than 220,000 SNP probes with a median spacing of 5.0kb, within the majority of genes.
Result Turnaround Time
14 - 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 imbalance 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. It will also allow the detection of complete or partial molar pregnancies.
Special Instructions
Pertinent medical findings should accompany the test request form. Please direct questions to genetic customer service at 800-345-4363.
If prior NIPT studies have been performed, include copy of the report.
There may be an additional charge for formalin positive tissue samples requiring embedding and pathology.
Limitations
This SNP assay does not detect balanced rearrangements, low-level mosaicism (<10%), marker chromosomes that only contain heterochromatin or tetraploidy. Genotypes in some formalin-fixed tissues are unable to be determined, allowing only genomic dosage to be determined.
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.
Specimen Requirements
Specimen
Preferred fixed products of conception (POC), formalin-fixed paraffin-embedded (FFPE) tissue
Volume
One paraffin block or ten 10-micron thick section slides
Minimum Volume
Extracted DNA from received specimen must yield at least 10 ul at a concentration of 8 ng/ul.
Container
Paraffin block transport pouch
Collection Instructions
Specimen should be fixed in 10% neutral-buffered formalin or formaldehyde.
Storage Instructions
Room temperature
Causes for Rejection
No fetal visualized on pathology report; only a small area is identified on fixed sample as fetal, and is less than 50% of sample
References
LOINC® Map
Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
---|---|---|---|---|---|---|
511997 | Reveal(R) POC Paraffin | 94087-4 | 511998 | Specimen Type | 48002-0 | |
511997 | Reveal(R) POC Paraffin | 94087-4 | 511999 | # of Genotyping Targets | N/A | |
511997 | Reveal(R) POC Paraffin | 94087-4 | 512000 | Array Type | 62377-7 | |
511997 | Reveal(R) POC Paraffin | 94087-4 | 512001 | Diagnosis | 62357-9 | |
511997 | Reveal(R) POC Paraffin | 94087-4 | 512002 | Interpretation | 62373-6 | |
511997 | Reveal(R) POC Paraffin | 94087-4 | 512003 | Director Review | 48672-0 | |
511997 | Reveal(R) POC Paraffin | 94087-4 | 512123 | 11502-2 | ||
Order Code | 511997 | |||||
Order Code Name | Reveal(R) POC Paraffin | |||||
Order Loinc | 94087-4 | |||||
Result Code | 511998 | |||||
Result Code Name | Specimen Type | |||||
UofM | ||||||
Result LOINC | 48002-0 | |||||
Order Code | 511997 | |||||
Order Code Name | Reveal(R) POC Paraffin | |||||
Order Loinc | 94087-4 | |||||
Result Code | 511999 | |||||
Result Code Name | # of Genotyping Targets | |||||
UofM | ||||||
Result LOINC | N/A | |||||
Order Code | 511997 | |||||
Order Code Name | Reveal(R) POC Paraffin | |||||
Order Loinc | 94087-4 | |||||
Result Code | 512000 | |||||
Result Code Name | Array Type | |||||
UofM | ||||||
Result LOINC | 62377-7 | |||||
Order Code | 511997 | |||||
Order Code Name | Reveal(R) POC Paraffin | |||||
Order Loinc | 94087-4 | |||||
Result Code | 512001 | |||||
Result Code Name | Diagnosis | |||||
UofM | ||||||
Result LOINC | 62357-9 | |||||
Order Code | 511997 | |||||
Order Code Name | Reveal(R) POC Paraffin | |||||
Order Loinc | 94087-4 | |||||
Result Code | 512002 | |||||
Result Code Name | Interpretation | |||||
UofM | ||||||
Result LOINC | 62373-6 | |||||
Order Code | 511997 | |||||
Order Code Name | Reveal(R) POC Paraffin | |||||
Order Loinc | 94087-4 | |||||
Result Code | 512003 | |||||
Result Code Name | Director Review | |||||
UofM | ||||||
Result LOINC | 48672-0 | |||||
Order Code | 511997 | |||||
Order Code Name | Reveal(R) POC Paraffin | |||||
Order Loinc | 94087-4 | |||||
Result Code | 512123 | |||||
Result Code Name | ||||||
UofM | ||||||
Result LOINC | 11502-2 |