Chromosome Analysis, Constitutional Peripheral Blood
Also known as: CHR PB
Use
Use this test to confirm the diagnosis of a known aneuploid syndrome or to detect a chromosome translocation. This test is intended for constitutional studies and is useful in cases of intellectual disability, multiple anomalies, and autism-spectrum disorders. It can also be employed in testing related to potential parental chromosomal rearrangements, which are important for recurrence risk counseling.
Special Instructions
Informed consent is required for New York State patients, and the relevant forms are linked on the ordering page. Specimens must be accompanied by a completed test request form indicating the clinical indication or reason for testing. If testing neonates, preliminary results are generally available in 2-3 days.
Limitations
The standard cytogenetic methodology may not detect small rearrangements, low-level mosaicism, or submicroscopic deletions or duplications that a genomic microarray analysis can. Counseling and further genomic analysis are recommended for better characterization of chromosomal rearrangements.
New York Approved
Methodology
Chromosomal / Cytogenetics (Karyotype)
Biomarkers
LOINC Codes
- 29770-5
- 11526-1
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
Room temperature.
Causes for Rejection
Frozen specimens, clotted specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
| Refrigerated | 48 hours |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant