Chromosome Analysis - Blood
Use
Blood Chromosome Analysis is critical for evaluating individuals suspected of having chromosomal disorders. It identifies abnormalities in chromosome number and structure, aiding in the diagnosis of conditions like Down syndrome and Turner syndrome. This analysis helps healthcare providers identify genetic underpinnings of clinical features such as dysmorphic traits, congenital anomalies, or developmental delays, allowing for better understanding and management of patient conditions. By establishing a definitive diagnosis, the test facilitates informed discussions about prognosis, treatment options, and reproductive decisions for affected individuals and their families. Additionally, it offers insights into risk factors associated with chromosomal abnormalities, enhancing preventative care.
Special Instructions
When coding for this test, ensure that the correct specimen types are collected and prepared according to guidelines. G-Banding requires precise methodology to ensure accurate results. It is advised to consult with the clinical lab to clarify any uncertainties regarding specimen handling or test protocols. Orders must follow procedures stated in the documentation, particularly on sample transport conditions, which can affect test validity. Monitoring of sample condition during transit is critical to maintain cell viability.
Limitations
The sensitivity of standard G-banding chromosome analysis has limitations; it may fail to detect subtle structural variations or low-level mosaicism. It does not identify microdeletions or microduplications, which might necessitate additional assays like Chromosomal Microarray Analysis for comprehensive genetic evaluation. Results interpreted must be contextualized within clinical findings, as standard cytogenetic testing does not exclude less common genetic disorders detectable by other methodologies. Variability in chromosome morphology can affect the accuracy of results, and provider discretion is advised when analyzing ambiguous findings.
New York Approved
Methodology
Chromosomal / Cytogenetics (Karyotype)
Biomarkers
Result Turnaround Time
18 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Unknown)
Volume
3-5cc (Adults/Children) or 1-2cc (Infants <2 years)
Minimum Volume
1-2cc
Container
Sodium Heparin tube
Collection Instructions
Draw blood in a Sodium Heparin (green-top) tube and send to the lab.
Storage Instructions
Ship at room temperature to the laboratory by overnight express.
Causes for Rejection
Specimen cannot be frozen; must arrive within 48 hours.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
| Frozen | Not acceptable |
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