Chromosome Analysis With Reflex to SNP Microarray−Pediatric (Reveal®)

CPT: Contact CPT coding department at 800-222-7566, ext 6-8400.
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Synonyms

  • aCGH
  • CGH
  • Chromosome RFX Microarray Pediatric/Adult
  • High Resolution G-Banding
  • Prometaphase Analysis

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.


Expected Turnaround Time

14 - 25 days




Specimen Requirements


Specimen

Whole blood


Volume

6 mL (adults), 3 mL (pediatric)


Minimum Volume

2 mL


Container

Green-top (heparin) tube


Collection

Using sterile technique, collect 10 mL blood into a green-top (heparin) tube or syringe. Invert the tube several times to prevent coagulation. Specimens must be sent the same day as collected and arrive in the laboratory within 48 hours of venipuncture.


Storage Instructions

Maintain specimen at room temperature. Specimen may be refrigerated if there is a delay in shipment. Do not freeze.


Causes for Rejection

Hemolysis; clotted specimen; specimen more than 48 hours old; use of improper anticoagulant; frozen specimen


Test Details


Use

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.


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.


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 platform, which uses more than 743,000 SNP probes and 1,953,000 NPCN probes with a median spacing of 0.88 kb.


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 PDF 51967-8
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 052311 Chromosome Microarray (CMA) 052313 Specimen Type 31208-2
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 052311 Chromosome Microarray (CMA) 052314 # of Genotyping Targets N/A
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 052311 Chromosome Microarray (CMA) 052315 Array Type N/A
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 052311 Chromosome Microarray (CMA) 052317 Diagnosis 62357-9
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 052311 Chromosome Microarray (CMA) 052322 Interpretation 62365-2
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 052311 Chromosome Microarray (CMA) 052319 Director Review: 48672-0
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 052311 Chromosome Microarray (CMA) 512123 PDF 51967-8

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