Chromosomal Microarray Analysis - HR
Use
Chromosomal Microarray Analysis - High Resolution utilizes advanced array-based comparative genomic hybridization (aCGH), analyzing approximately 180,000 oligonucleotides that cover the entire genome. The average probe resolution is around 30Kb, effectively allowing for the examination of over 1,700 genes with enhanced exon coverage and the entire mitochondrial genome. Through differential labeling of genomic DNA from test and control samples, the analysis identifies losses and gains of genomic material, enabling the detection of known microdeletions and unbalanced karyotypes. This powerful tool is particularly indicated for patients with dysmorphic features, intellectual disabilities, developmental delays, or previous inconclusive genetic tests. However, it's essential to note that the assay does not detect low-level mosaicism, balanced translocations, inversions, or point mutations, which could be relevant to the clinical phenotype.
Special Instructions
For the best results, samples should be handled and shipped appropriately, ensuring that they arrive at the laboratory within 72 hours. When clarifying or following up on CMA results, it is highly recommended to use sodium heparin tubes. The use of appropriate collection methods enhances the integrity of the sample and the accuracy of the results. Consult the provided ordering kit for detailed instructions and ensure that samples are obviously clearly labeled. In case of skin biopsy collection, prefer specific anatomical locations to ensure cell viability, enhancing the analysis outcomes.
Limitations
This test is designed to detect gains and losses of genomic material, thus lacking the capability to identify low-level mosaicism or balanced structural variations like translocations and inversions. Additionally, point mutations may not be revealed through this analysis, meaning that practitioners must consider complementary testing methods where necessary to fully explore potential genetic abnormalities that might contribute to a patient's clinical presentation.
New York Approved
Methodology
Chromosomal / Cytogenetics (FISH)
Biomarkers
Result Turnaround Time
14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Fresh)
Volume
3-5 cc
Minimum Volume
2-3 cc
Container
EDTA (purple-top) tube
Collection Instructions
Draw blood in an EDTA (purple-top) tube(s).
Storage Instructions
Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 72 hrs.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |