Ordering Recommendation

Appropriate when there is a significant chance of trisomy. Chromosome studies will identify obvious numerical abnormalities, balanced chromosomal rearrangements, and large deletions/duplications. If chromosomes are normal, then testing reflexes to microarray.

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

Green (sodium heparin).
New York State Clients: Lavender (EDTA) AND Green (sodium heparin)

Specimen Preparation

Do not freeze or expose to extreme temperatures. Transport 5 mL whole blood. (Min: 2 mL)
New York State Clients: Transport 3 mL whole blood EDTA (Min: 2 mL) AND 4 mL whole blood (sodium heparin) (Min: 2 mL)
FOR NEW YORK CLIENT NEWBORNS: 1 mL whole blood EDTA (Min: 1 mL) AND 4 mL whole blood (sodium heparin) (Min: 2 mL)

Storage/Transport Temperature

Room temperature.

Unacceptable Conditions

Frozen specimens. Clotted specimens.

Remarks

New York State Clients: Testing is only approved for Chromosome Analysis. Reflex testing will referred.

Stability

Ambient: 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable
New York State Clients: Ambient: 1 week; Refrigerated: 1 week; Frozen: Unacceptable

Methodology

Giemsa Band/Genomic Microarray (Oligo-SNP Array)

Performed

Sun-Sat

Reported

3-10 days
If reflexed, add 7-12 days.

Reference Interval

By report

Interpretive Data

Refer to report.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)

Note

These studies involve culturing of living cells; therefore, turnaround times given represent average times, which are subject to multiple variables.

A processing fee will be charged if the client cancels this procedure after the test has been set up

When the result of Chromosome Analysis is "normal," then Genomic Microarray testing will be added. Additional charges apply.

Specimen and completed test request form, including clinical indication, must be received within 48 hours of collection.

Testing on a neonate, 7 days old or younger, will automatically order a preliminary chromosome analysis (intended to identify whole chromosome aneuploidies and large structural rearrangements). This will be reported under the same accession number as the final chromosome report, and is generally available in 2-3 days, if sample quantity and metaphase quality permits. Final results will be available within 5-7 days.

This test must be ordered using Cytogenetic test request form #43097 or through your ARUP interface. Please submit the Patient History for Pediatric/Adult Cytogenetic (Chromosome) Studies form with the electronic packing list (https://ltd.aruplab.com/Tests/Pdf/20).

Hotline History

N/A

CPT Codes

88262; 88230; if reflexed, add 81229

Components

Component Test Code* Component Chart Name LOINC
0097640 Chromosome Analysis Constitutional Blood 29770-5
2006186 EER Chrom Analysis PB w/Rflx to Array 11526-1
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • aCGH
  • array
  • Array CGH
  • Array Comparative Genomic Hybridization
  • CGH
  • Chromosomal Microarray
  • CMA
  • CMA SNP
  • Comparative Genomic Hybridization
  • Congenital Array
  • Constitutional Array
  • Microarray
  • Molecular Karyotype
  • Oligo Array
  • oligoarray
  • Oligonucleotide Array
  • Single-nucleotide-polymorphism (SNP) array
  • Targeted Array
  • Whole Genome Array
Chromosome Analysis, Constitutional Blood, with Reflex to Genomic Microarray