Test Details
Methodology
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.
Result Turnaround Time
9 - 12 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
The chromosome analysis determines fetal karyotype. A normal chromosome analysis will reflex to the SNP assay, which 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. If specimens from a twin pregnancy are submitted by request, it can be reported if these are DZ or MZ twins.
Special Instructions
Pertinent medical findings must accompany request.
If prior NIPT studies have been performed, include copy of the report.
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.
Specimen Requirements
Specimen
Chorionic villi
Volume
20 to 30 mg
Minimum Volume
5 mg
Container
The CVS transport tube (a sterile specimen container with transport medium) is available from LabCorp. Please call customer service at 800-345-4363.
Collection Instructions
Specimen is collected in syringe (transabdominal) or catheter (transcervical) and transferred by flushing with the media from the sterile container back into it. After collecting the specimen, wash with sterile saline solution (NaCl 0.95%) containing sodium heparin (two to three drops of sodium heparin in 10 mL of saline). Carefully transfer the specimen into the CVS transport tube, using a sterile Pasteur pipette or a sterile fine-needle forceps. Be sure to fill transport tubes completely with media. Samples from twin (multiple) pregnancies should be appropriately labeled and placed in separate transport containers with a separate test request form for each twin.
Storage Instructions
Maintain specimen at room temperature and transport to the cytogenetics laboratory immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours.
Causes for Rejection
No villi submitted in specimen; improperly labeled specimen; frozen specimen; specimen placed in fixative
LOINC® Map
Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
---|---|---|---|---|---|---|
511033 | Chromosome CVS RFX CMA | 510052 | Cells Counted | 64089-6 | ||
511033 | Chromosome CVS RFX CMA | 510054 | Cells Analyzed | 64086-2 | ||
511033 | Chromosome CVS RFX CMA | 510055 | Cells Karyotyped | 64085-4 | ||
511033 | Chromosome CVS RFX CMA | 510056 | GTG Band Resolution | 64087-0 | ||
511033 | Chromosome CVS RFX CMA | 510057 | Cytogenetic Diagnosis | 33774-1 | ||
511033 | Chromosome CVS RFX CMA | 511034 | Cytogenetic Interpretation | 64088-8 | ||
511033 | Chromosome CVS RFX CMA | 510059 | Specimen Type | 31208-2 | ||
511033 | Chromosome CVS RFX CMA | 511036 | Director Review: | 48672-0 | ||
511033 | Chromosome CVS RFX CMA | 052320 | Reflex | N/A | ||
Order Code | 511033 | |||||
Order Code Name | Chromosome CVS RFX CMA | |||||
Order Loinc | ||||||
Result Code | 510052 | |||||
Result Code Name | Cells Counted | |||||
UofM | ||||||
Result LOINC | 64089-6 | |||||
Order Code | 511033 | |||||
Order Code Name | Chromosome CVS RFX CMA | |||||
Order Loinc | ||||||
Result Code | 510054 | |||||
Result Code Name | Cells Analyzed | |||||
UofM | ||||||
Result LOINC | 64086-2 | |||||
Order Code | 511033 | |||||
Order Code Name | Chromosome CVS RFX CMA | |||||
Order Loinc | ||||||
Result Code | 510055 | |||||
Result Code Name | Cells Karyotyped | |||||
UofM | ||||||
Result LOINC | 64085-4 | |||||
Order Code | 511033 | |||||
Order Code Name | Chromosome CVS RFX CMA | |||||
Order Loinc | ||||||
Result Code | 510056 | |||||
Result Code Name | GTG Band Resolution | |||||
UofM | ||||||
Result LOINC | 64087-0 | |||||
Order Code | 511033 | |||||
Order Code Name | Chromosome CVS RFX CMA | |||||
Order Loinc | ||||||
Result Code | 510057 | |||||
Result Code Name | Cytogenetic Diagnosis | |||||
UofM | ||||||
Result LOINC | 33774-1 | |||||
Order Code | 511033 | |||||
Order Code Name | Chromosome CVS RFX CMA | |||||
Order Loinc | ||||||
Result Code | 511034 | |||||
Result Code Name | Cytogenetic Interpretation | |||||
UofM | ||||||
Result LOINC | 64088-8 | |||||
Order Code | 511033 | |||||
Order Code Name | Chromosome CVS RFX CMA | |||||
Order Loinc | ||||||
Result Code | 510059 | |||||
Result Code Name | Specimen Type | |||||
UofM | ||||||
Result LOINC | 31208-2 | |||||
Order Code | 511033 | |||||
Order Code Name | Chromosome CVS RFX CMA | |||||
Order Loinc | ||||||
Result Code | 511036 | |||||
Result Code Name | Director Review: | |||||
UofM | ||||||
Result LOINC | 48672-0 | |||||
Order Code | 511033 | |||||
Order Code Name | Chromosome CVS RFX CMA | |||||
Order Loinc | ||||||
Result Code | 052320 | |||||
Result Code Name | Reflex | |||||
UofM | ||||||
Result LOINC | N/A |
Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
---|---|---|---|---|---|---|
Reflex 1 | 510098 | Chromosome Microarray | 510216 | Chromosome Microarray | N/A | |
Reflex 1 | ||||||
Order Code | 510098 | |||||
Order Name | Chromosome Microarray | |||||
Result Code | 510216 | |||||
Result Name | Chromosome Microarray | |||||
UofM | ||||||
Result LOINC | N/A |
Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
---|---|---|---|---|---|---|
Reflex 1 | 510098 | Chromosome Microarray | 510043 | Specimen Type | 31208-2 | |
Reflex 1 | ||||||
Order Code | 510098 | |||||
Order Name | Chromosome Microarray | |||||
Result Code | 510043 | |||||
Result Name | Specimen Type | |||||
UofM | ||||||
Result LOINC | 31208-2 |
Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
---|---|---|---|---|---|---|
Reflex 1 | 510098 | Chromosome Microarray | 510044 | # of Genotyping Targets | N/A | |
Reflex 1 | ||||||
Order Code | 510098 | |||||
Order Name | Chromosome Microarray | |||||
Result Code | 510044 | |||||
Result Name | # of Genotyping Targets | |||||
UofM | ||||||
Result LOINC | N/A |
Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
---|---|---|---|---|---|---|
Reflex 1 | 510098 | Chromosome Microarray | 510045 | Array Type | N/A | |
Reflex 1 | ||||||
Order Code | 510098 | |||||
Order Name | Chromosome Microarray | |||||
Result Code | 510045 | |||||
Result Name | Array Type | |||||
UofM | ||||||
Result LOINC | N/A |
Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
---|---|---|---|---|---|---|
Reflex 1 | 510098 | Chromosome Microarray | 510048 | Diagnosis | 48000-4 | |
Reflex 1 | ||||||
Order Code | 510098 | |||||
Order Name | Chromosome Microarray | |||||
Result Code | 510048 | |||||
Result Name | Diagnosis | |||||
UofM | ||||||
Result LOINC | 48000-4 |
Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
---|---|---|---|---|---|---|
Reflex 1 | 510098 | Chromosome Microarray | 510049 | Interpretation | 50398-7 | |
Reflex 1 | ||||||
Order Code | 510098 | |||||
Order Name | Chromosome Microarray | |||||
Result Code | 510049 | |||||
Result Name | Interpretation | |||||
UofM | ||||||
Result LOINC | 50398-7 |
Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
---|---|---|---|---|---|---|
Reflex 1 | 510098 | Chromosome Microarray | 510061 | Director Review | 48672-0 | |
Reflex 1 | ||||||
Order Code | 510098 | |||||
Order Name | Chromosome Microarray | |||||
Result Code | 510061 | |||||
Result Name | Director Review | |||||
UofM | ||||||
Result LOINC | 48672-0 |
Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
---|---|---|---|---|---|---|
Reflex 1 | 510098 | Chromosome Microarray | 512123 | 11502-2 | ||
Reflex 1 | ||||||
Order Code | 510098 | |||||
Order Name | Chromosome Microarray | |||||
Result Code | 512123 | |||||
Result Name | ||||||
UofM | ||||||
Result LOINC | 11502-2 |