Chromosome Analysis - Tissue
Use
Chromosome Analysis - Tissue is conducted to investigate the number and arrangement of chromosomes within tissues, specifically concerning pregnancy loss or suspected chromosomal abnormalities. This test plays a vital role in diagnosing chromosome disorders by examining the chromosomal structure and identifying abnormalities that could lead to health issues. Traditional cytogenetic analysis focuses on the visualization of G-banded chromosomes under a microscope, allowing detection of numerical and structural anomalies such as aneuploidy, inversions, and translocations. Key indications for this test include confirming a suspected diagnosis and uncovering the causes behind pregnancy losses. The test provides valuable insights to guide patient management and genetic counseling, by clarifying the genetic underpinnings of reproductive challenges.
Special Instructions
For initial screening, we recommend CMA - HR (test code 8655).
Limitations
The cytogenetic analysis may not detect minor rearrangements (less than 5Mb) or low-level mosaicism. Additionally, it does not identify microdeletions and microduplications that could be diagnosed via Chromosomal Microarray Analysis (CMA). Therefore, while this test can reveal significant chromosomal abnormalities, it may not provide a complete picture and further testing may be warranted based on specific clinical indications. Additionally, these tests cannot rule out genetic conditions that are not identifiable through standard cytogenetic techniques, reinforcing the need for comprehensive genetic counseling and follow-up evaluations when required.
New York Approved
Methodology
Chromosomal / Cytogenetics (Karyotype)
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (Unknown)
Volume
10 cubic millimeters
Minimum Volume
10 cubic millimeters
Container
sterile lab provided container with RPMI media
Collection Instructions
Collect sample from fetal side near the site of cord insertion. In the absence of RPMI media, use sterile saline. Do not place samples in formalin or other fixatives.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
Other tests from different labs that may be relevant