Whole Genome Chromosomal Microarray (CMA-ISCA)
Use
The Whole Genome Chromosomal Microarray (CMA-ISCA) is designed for individuals displaying unexplained abnormal phenotypes such as global developmental delay, intellectual disability, autism spectrum disorders, dysmorphic features, heart defects, epilepsy, and seizures. It is especially applicable for those with normal G-banded chromosome analysis but with an abnormal phenotype, or those with suspected uniparental disomy. It also serves as a screening tool for known and unique microdeletions and microduplications associated with various syndromes.
Special Instructions
Genetic counseling is recommended for interpretation of results. This test should be ordered when microdeletions and duplications need to be screened, or when unexplained phenotypes are present even with normal G-banded chromosome analysis.
Limitations
CMA can only detect gross genomic copy number imbalances and long contiguous stretches of homozygosity in the nuclear genome. It cannot detect balanced chromosomal rearrangements like inversions and translocations, low levels of mosaicism, point mutations, or indels. Additionally, it cannot detect mitochondrial genome imbalances or accurately detect the presence of certain forms of mosaicism.
New York Approved
Methodology
Microarray (aCGH)
Biomarkers
Result Turnaround Time
21-35 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided