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.
Results requiring the completion of microarray testing may exceed the standard TAT
- Patient Preparation
- Green (sodium heparin).
- Specimen Preparation
- Do not freeze or expose to extreme temperatures. Transport 5 mL whole blood. (Min: 2 mL)
- Storage/Transport Temperature
- Room temperature.
- Unacceptable Conditions
- Frozen specimens. Clotted specimens.
- Ambient: 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
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 Cytogenetic (Chromosome) Studies form with the electronic packing list (available at http://www.aruplab.com/genetics/forms.php).
|Component Test Code*||Component Chart Name||LOINC|
|0097640||Chromosome Analysis, Peripheral Blood||29770-5|
|2006186||EER Chrom Analysis PB w/Rflx to Array||11526-1|
- Array CGH
- Array Comparative Genomic Hybridization
- Chromosomal Microarray
- CMA SNP
- Comparative Genomic Hybridization
- Congenital Array
- Constitutional Array
- Molecular Karyotype
- Oligo Array
- Oligonucleotide Array
- Single-nucleotide-polymorphism (SNP) array
- Targeted Array
- Whole Genome Array