Test Details
Methodology
Culture of cells in special medium; colcemid arrest of cells in prophase stage of mitosis following cell synchronization techniques; if cytogenetic analysis is normal, 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
Culture of cells in special medium; colcemid arrest of cells in prophase stage of mitosis following cell synchronization techniques |
Culture of cells in special medium; colcemid arrest of cells in prophase stage of mitosis following cell synchronization techniques; if cytogenetic analysis is normal, 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 |
Result Turnaround Time
14 - 25 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 detects microscopically visible chromosomal abnormalities and, if normal, SNP array reflex 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.
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This test detects microscopically visible chromosomal abnormalities and, if normal, SNP array reflex 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
Pertinent medical findings must accompany request. Call 800-345-4363 to request forms, or photocopy the Clinical Questionnaire for SNP Microarray from the Genetics Appendix online. This test may also be performed on adults.
When a child tested with this assay is found to have an abnormal array of unknown clinical significance that may be clarified through parental testing, there will be no charge associated with the follow-up parental testing that is based on the child's results. All other parental follow-up testing will be charged, including (but not limited to) autism susceptibility regions, known microdeletions/microduplications, autosomal recessive deletions/duplications, and large copy-number changes with likely pathogenic significance. The child's abnormal array results will indicate whether parental testing will be performed at no charge and will include the appropriate parental follow-up test number. For parental follow-up testing for arrays not performed at LabCorp, call 800-345-4363 to speak to a genetic counselor.
Limitations
The 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.
The 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 Lab |
The 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
Whole blood
Volume
5 mL (adults), 2 mL (neonates)
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5 mL (adults), 2 mL (neonates) |
Minimum Volume
2 mL
Container
Green-top (sodium heparin) tube
Green-top ( |
Green-top (sodium heparin) tube |
Collection Instructions
Using sterile technique, collect 5 mL of blood into a green-top (sodium heparin) tube or syringe. Invert the tub several times to prevent coagulation. Specimens should be sent the same day as collected. Use of improper anticoagulant and/or frozen specimen cannot be processed.
Using sterile technique, collect |
Using sterile technique, collect 5 mL of blood into a green-top (sodium heparin) tube or syringe. Invert the tub several times to prevent coagulation. Specimens should be sent the same day as collected. Use of improper anticoagulant and/or frozen specimen cannot be processed. |
Storage Instructions
Maintain specimen at room temperature. Specimen may be refrigerated if there is a delay in shipment. Do not freeze.
Causes for Rejection
Upon receipt, suitability of specimen will be determined by the Cytogenetics laboratory.
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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 |
|---|---|---|---|---|---|---|
| 052045 | Chromosome RFX to Microarray | 62386-8 | 052302 | Cells Counted | 62361-1 | |
| 052045 | Chromosome RFX to Microarray | 62386-8 | 052303 | Cells Karyotyped | 55199-4 | |
| 052045 | Chromosome RFX to Microarray | 62386-8 | 052304 | Cells Analyzed | 62360-3 | |
| 052045 | Chromosome RFX to Microarray | 62386-8 | 052305 | GTG Band Resolution Achieved | 62358-7 | |
| 052045 | Chromosome RFX to Microarray | 62386-8 | 052306 | Cytogenetic Diagnosis | 62356-1 | |
| 052045 | Chromosome RFX to Microarray | 62386-8 | 052014 | Cytogenetic Interpretation | 62357-9 | |
| 052045 | Chromosome RFX to Microarray | 62386-8 | 052308 | Specimen Type | 48002-0 | |
| 052045 | Chromosome RFX to Microarray | 62386-8 | 052015 | Director Review: | 48672-0 | |
| 052045 | Chromosome RFX to Microarray | 62386-8 | 052310 | Reflex | N/A | |
| 052045 | Chromosome RFX to Microarray | 62386-8 | 512123 | 11502-2 | ||
| Order Code | 052045 | |||||
| Order Code Name | Chromosome RFX to Microarray | |||||
| Order Loinc | 62386-8 | |||||
| Result Code | 052302 | |||||
| Result Code Name | Cells Counted | |||||
| UofM | ||||||
| Result LOINC | 62361-1 | |||||
| Order Code | 052045 | |||||
| Order Code Name | Chromosome RFX to Microarray | |||||
| Order Loinc | 62386-8 | |||||
| Result Code | 052303 | |||||
| Result Code Name | Cells Karyotyped | |||||
| UofM | ||||||
| Result LOINC | 55199-4 | |||||
| Order Code | 052045 | |||||
| Order Code Name | Chromosome RFX to Microarray | |||||
| Order Loinc | 62386-8 | |||||
| Result Code | 052304 | |||||
| Result Code Name | Cells Analyzed | |||||
| UofM | ||||||
| Result LOINC | 62360-3 | |||||
| Order Code | 052045 | |||||
| Order Code Name | Chromosome RFX to Microarray | |||||
| Order Loinc | 62386-8 | |||||
| Result Code | 052305 | |||||
| Result Code Name | GTG Band Resolution Achieved | |||||
| UofM | ||||||
| Result LOINC | 62358-7 | |||||
| Order Code | 052045 | |||||
| Order Code Name | Chromosome RFX to Microarray | |||||
| Order Loinc | 62386-8 | |||||
| Result Code | 052306 | |||||
| Result Code Name | Cytogenetic Diagnosis | |||||
| UofM | ||||||
| Result LOINC | 62356-1 | |||||
| Order Code | 052045 | |||||
| Order Code Name | Chromosome RFX to Microarray | |||||
| Order Loinc | 62386-8 | |||||
| Result Code | 052014 | |||||
| Result Code Name | Cytogenetic Interpretation | |||||
| UofM | ||||||
| Result LOINC | 62357-9 | |||||
| Order Code | 052045 | |||||
| Order Code Name | Chromosome RFX to Microarray | |||||
| Order Loinc | 62386-8 | |||||
| Result Code | 052308 | |||||
| Result Code Name | Specimen Type | |||||
| UofM | ||||||
| Result LOINC | 48002-0 | |||||
| Order Code | 052045 | |||||
| Order Code Name | Chromosome RFX to Microarray | |||||
| Order Loinc | 62386-8 | |||||
| Result Code | 052015 | |||||
| Result Code Name | Director Review: | |||||
| UofM | ||||||
| Result LOINC | 48672-0 | |||||
| Order Code | 052045 | |||||
| Order Code Name | Chromosome RFX to Microarray | |||||
| Order Loinc | 62386-8 | |||||
| Result Code | 052310 | |||||
| Result Code Name | Reflex | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 052045 | |||||
| Order Code Name | Chromosome RFX to Microarray | |||||
| Order Loinc | 62386-8 | |||||
| Result Code | 512123 | |||||
| Result Code Name | ||||||
| UofM | ||||||
| Result LOINC | 11502-2 |
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
|---|---|---|---|---|---|---|
| Reflex 1 | 052311 | Chromosome Microarray (CMA) | 052313 | Specimen Type | 31208-2 | |
| Reflex 1 | ||||||
| Order Code | 052311 | |||||
| Order Name | Chromosome Microarray (CMA) | |||||
| Result Code | 052313 | |||||
| Result Name | Specimen Type | |||||
| UofM | ||||||
| Result LOINC | 31208-2 | |||||
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
|---|---|---|---|---|---|---|
| Reflex 1 | 052311 | Chromosome Microarray (CMA) | 052314 | # of Genotyping Targets | N/A | |
| Reflex 1 | ||||||
| Order Code | 052311 | |||||
| Order Name | Chromosome Microarray (CMA) | |||||
| Result Code | 052314 | |||||
| Result Name | # of Genotyping Targets | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
|---|---|---|---|---|---|---|
| Reflex 1 | 052311 | Chromosome Microarray (CMA) | 052315 | Array Type | N/A | |
| Reflex 1 | ||||||
| Order Code | 052311 | |||||
| Order Name | Chromosome Microarray (CMA) | |||||
| Result Code | 052315 | |||||
| Result Name | Array Type | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
|---|---|---|---|---|---|---|
| Reflex 1 | 052311 | Chromosome Microarray (CMA) | 052317 | Diagnosis | 62357-9 | |
| Reflex 1 | ||||||
| Order Code | 052311 | |||||
| Order Name | Chromosome Microarray (CMA) | |||||
| Result Code | 052317 | |||||
| Result Name | Diagnosis | |||||
| UofM | ||||||
| Result LOINC | 62357-9 | |||||
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
|---|---|---|---|---|---|---|
| Reflex 1 | 052311 | Chromosome Microarray (CMA) | 052322 | Interpretation | 62365-2 | |
| Reflex 1 | ||||||
| Order Code | 052311 | |||||
| Order Name | Chromosome Microarray (CMA) | |||||
| Result Code | 052322 | |||||
| Result Name | Interpretation | |||||
| UofM | ||||||
| Result LOINC | 62365-2 | |||||
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
|---|---|---|---|---|---|---|
| Reflex 1 | 052311 | Chromosome Microarray (CMA) | 052319 | Director Review: | 48672-0 | |
| Reflex 1 | ||||||
| Order Code | 052311 | |||||
| Order Name | Chromosome Microarray (CMA) | |||||
| Result Code | 052319 | |||||
| Result Name | Director Review: | |||||
| UofM | ||||||
| Result LOINC | 48672-0 | |||||
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
|---|---|---|---|---|---|---|
| Reflex 1 | 052311 | Chromosome Microarray (CMA) | 512123 | 11502-2 | ||
| Reflex 1 | ||||||
| Order Code | 052311 | |||||
| Order Name | Chromosome Microarray (CMA) | |||||
| Result Code | 512123 | |||||
| Result Name | ||||||
| UofM | ||||||
| Result LOINC | 11502-2 | |||||