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.
SNP microarray analysis is performed using the Cytoscan® HD |
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
14 - 17 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.
Test Includes
DNA extraction; interpretation; limited five-cell high-resolution chromosome analysis (two analyses, one karyotype)
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 Clinical Questionnaire for SNP Microarray should accompany specimens. Call 800-345-4363 to request the appropriate form, or print/photocopy the form 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 possible and 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
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.
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 Lab |
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
Whole blood
Volume
5 mL (adults), 2 mL (neonates)
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5 mL (adults), 2 mL (neonates) |
Minimum Volume
2 mL (neonatal) (Note: This volume does not allow for repeat testing.)
Container
Green-top (sodium heparin) tube (preferred) or yellow-top (ACD) tube is acceptable
Green-top ( |
Green-top (sodium heparin) tube (preferred) or yellow-top (ACD) tube is acceptable |
Collection Instructions
Using sterile technique, collect 5 mL of blood into a green-top (sodium heparin) tube or syringe. Invert the tube several times to prevent coagulation. Specimens should be sent the same day as collected. Use of improper anticoagulant fixed specimen, and/or frozen specimen cannot be processed.
Using sterile technique, collect 5 mL of blood into a green-top (sodium heparin) tube or syringe. Invert the tube several times to prevent coagulation. Specimens should be sent the same day as collected. Use of improper anticoagulant fixed specimen, and/or frozen specimen cannot be processed. |
Storage Instructions
Maintain specimen at room temperature.
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. |
References
LOINC® Map
Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
---|---|---|---|---|---|---|
511535 | Blood Chrom 5 Cell Cnt + CMA | 052101 | Cells Counted | 62361-1 | ||
511535 | Blood Chrom 5 Cell Cnt + CMA | 052102 | Cells Karyotyped | 55199-4 | ||
511535 | Blood Chrom 5 Cell Cnt + CMA | 052103 | Cells Analyzed | 62360-3 | ||
511535 | Blood Chrom 5 Cell Cnt + CMA | 052116 | GTG Band Resolution Achieved | 62358-7 | ||
511535 | Blood Chrom 5 Cell Cnt + CMA | 052115 | Cytogenetic Diagnosis | 62365-2 | ||
511535 | Blood Chrom 5 Cell Cnt + CMA | 052039 | Cytogenetic Interpretation | 50619-6 | ||
511535 | Blood Chrom 5 Cell Cnt + CMA | 052157 | Specimen Type | 31208-2 | ||
511535 | Blood Chrom 5 Cell Cnt + CMA | 052041 | Director Review: | 48672-0 | ||
511535 | Blood Chrom 5 Cell Cnt + CMA | 512123 | 11502-2 | |||
511535 | Blood Chrom 5 Cell Cnt + CMA | 510004 | Specimen Type | 31208-2 | ||
511535 | Blood Chrom 5 Cell Cnt + CMA | 510005 | # of Genotyping Targets | 62378-5 | ||
511535 | Blood Chrom 5 Cell Cnt + CMA | 510006 | Array Type | 62376-9 | ||
511535 | Blood Chrom 5 Cell Cnt + CMA | 510007 | Diagnosis | 62357-9 | ||
511535 | Blood Chrom 5 Cell Cnt + CMA | 510109 | Interpretation | 62357-9 | ||
511535 | Blood Chrom 5 Cell Cnt + CMA | 510035 | Director Review: | 48672-0 | ||
Order Code | 511535 | |||||
Order Code Name | Blood Chrom 5 Cell Cnt + CMA | |||||
Order Loinc | ||||||
Result Code | 052101 | |||||
Result Code Name | Cells Counted | |||||
UofM | ||||||
Result LOINC | 62361-1 | |||||
Order Code | 511535 | |||||
Order Code Name | Blood Chrom 5 Cell Cnt + CMA | |||||
Order Loinc | ||||||
Result Code | 052102 | |||||
Result Code Name | Cells Karyotyped | |||||
UofM | ||||||
Result LOINC | 55199-4 | |||||
Order Code | 511535 | |||||
Order Code Name | Blood Chrom 5 Cell Cnt + CMA | |||||
Order Loinc | ||||||
Result Code | 052103 | |||||
Result Code Name | Cells Analyzed | |||||
UofM | ||||||
Result LOINC | 62360-3 | |||||
Order Code | 511535 | |||||
Order Code Name | Blood Chrom 5 Cell Cnt + CMA | |||||
Order Loinc | ||||||
Result Code | 052116 | |||||
Result Code Name | GTG Band Resolution Achieved | |||||
UofM | ||||||
Result LOINC | 62358-7 | |||||
Order Code | 511535 | |||||
Order Code Name | Blood Chrom 5 Cell Cnt + CMA | |||||
Order Loinc | ||||||
Result Code | 052115 | |||||
Result Code Name | Cytogenetic Diagnosis | |||||
UofM | ||||||
Result LOINC | 62365-2 | |||||
Order Code | 511535 | |||||
Order Code Name | Blood Chrom 5 Cell Cnt + CMA | |||||
Order Loinc | ||||||
Result Code | 052039 | |||||
Result Code Name | Cytogenetic Interpretation | |||||
UofM | ||||||
Result LOINC | 50619-6 | |||||
Order Code | 511535 | |||||
Order Code Name | Blood Chrom 5 Cell Cnt + CMA | |||||
Order Loinc | ||||||
Result Code | 052157 | |||||
Result Code Name | Specimen Type | |||||
UofM | ||||||
Result LOINC | 31208-2 | |||||
Order Code | 511535 | |||||
Order Code Name | Blood Chrom 5 Cell Cnt + CMA | |||||
Order Loinc | ||||||
Result Code | 052041 | |||||
Result Code Name | Director Review: | |||||
UofM | ||||||
Result LOINC | 48672-0 | |||||
Order Code | 511535 | |||||
Order Code Name | Blood Chrom 5 Cell Cnt + CMA | |||||
Order Loinc | ||||||
Result Code | 512123 | |||||
Result Code Name | ||||||
UofM | ||||||
Result LOINC | 11502-2 | |||||
Order Code | 511535 | |||||
Order Code Name | Blood Chrom 5 Cell Cnt + CMA | |||||
Order Loinc | ||||||
Result Code | 510004 | |||||
Result Code Name | Specimen Type | |||||
UofM | ||||||
Result LOINC | 31208-2 | |||||
Order Code | 511535 | |||||
Order Code Name | Blood Chrom 5 Cell Cnt + CMA | |||||
Order Loinc | ||||||
Result Code | 510005 | |||||
Result Code Name | # of Genotyping Targets | |||||
UofM | ||||||
Result LOINC | 62378-5 | |||||
Order Code | 511535 | |||||
Order Code Name | Blood Chrom 5 Cell Cnt + CMA | |||||
Order Loinc | ||||||
Result Code | 510006 | |||||
Result Code Name | Array Type | |||||
UofM | ||||||
Result LOINC | 62376-9 | |||||
Order Code | 511535 | |||||
Order Code Name | Blood Chrom 5 Cell Cnt + CMA | |||||
Order Loinc | ||||||
Result Code | 510007 | |||||
Result Code Name | Diagnosis | |||||
UofM | ||||||
Result LOINC | 62357-9 | |||||
Order Code | 511535 | |||||
Order Code Name | Blood Chrom 5 Cell Cnt + CMA | |||||
Order Loinc | ||||||
Result Code | 510109 | |||||
Result Code Name | Interpretation | |||||
UofM | ||||||
Result LOINC | 62357-9 | |||||
Order Code | 511535 | |||||
Order Code Name | Blood Chrom 5 Cell Cnt + CMA | |||||
Order Loinc | ||||||
Result Code | 510035 | |||||
Result Code Name | Director Review: | |||||
UofM | ||||||
Result LOINC | 48672-0 |