Chromosome Analysis, Constitutional Blood, with Reflex to Genomic Microarray
Also known as: PB REFLEX
Use
This test is used when there is a significant likelihood of aneuploidy in a patient. The chromosome analysis will identify visible numerical abnormalities, chromosomal rearrangements, and large deletions/duplications. If chromosomes are normal, do not grow, or show a large deletion/duplication requiring further genomic characterization, testing will reflex to microarray analysis.
Special Instructions
Counseling and informed consent are recommended for genetic testing. Specific forms such as the Informed Consent for Genetic Testing and Patient History form for Pediatric/Adult Cytogenetic (Chromosome) Testing must be submitted with the order, especially for New York State clients. Testing is only approved for chromosome analysis in New York, and reflex testing will be referred. Informed consent is required.
Limitations
This analysis may not detect small rearrangements or low-level mosaicism and cannot detect submicroscopic deletions or duplications that are identifiable by genomic microarray analysis. Additional cytogenetic testing by FISH may be recommended to address these limitations. Results may require further genomic microarray analysis for comprehensive characterization.
Methodology
Chromosomal / Cytogenetics
Biomarkers
Result Turnaround Time
3-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
2 mL
Container
Green (sodium heparin) tube
Storage Instructions
Do not freeze or expose to extreme temperatures.
Causes for Rejection
Frozen specimens. Clotted specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
| Refrigerated | 48 hours |
| Frozen | Unacceptable |