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

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

Test Details

Synonyms

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

Use

Detects microscopically visible chromosomal abnormalities and, if normal, array reflex detects submicroscopic imbalance associated with developmental delay/autism using 2.695 million genomic targets. The SNP microarray also provides detection of UPD (uniparental disomy) and the degree of consanguinity, as well as the genomic locations of recessive allele risk.

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, high resolution microarray targeting 2.695 million copy-number and allele-specific genome sites from cultured cells will be performed.

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

Clinical Information

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.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
052045 Chromosome RFX to Microarray 052302 Cells Counted 62361-1
052045 Chromosome RFX to Microarray 052303 Cells Karyotyped 55199-4
052045 Chromosome RFX to Microarray 052304 Cells Analyzed 62360-3
052045 Chromosome RFX to Microarray 052305 GTG Band Resolution Achieved 62358-7
052045 Chromosome RFX to Microarray 052306 Cytogenetic Diagnosis 62356-1
052045 Chromosome RFX to Microarray 052014 Cytogenetic Interpretation 62365-2
052045 Chromosome RFX to Microarray 052308 Specimen Type 31208-2
052045 Chromosome RFX to Microarray 052015 Director Review: 48672-0
052045 Chromosome RFX to Microarray 052310 Reflex N/A
052045 Chromosome RFX to Microarray 511936 PDF 80563-0
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) 511936 PDF 80563-0

For Providers

Please login to order a test.

 

© 2018  Laboratory Corporation of America® Holdings and Lexi-Comp Inc. All Rights Reserved.

CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2018, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf