Rapid Whole Genome Chromosomal Microarray (CMA-ISCA) Test
Use
The Rapid Whole Genome Chromosomal Microarray (CMA-ISCA) Test is intended for individuals who require a rapid result for non-prenatal diagnostic purposes. It is suitable for individuals with unexplained abnormal phenotypes such as global developmental delay, intellectual disability, autism spectrum disorders, dysmorphic features, congenital anomalies, epilepsy, and heart defects. This test is also appropriate for those with normal G-banded chromosome analysis but with an abnormal phenotype, as well as those needing screening for specific or unique microdeletions, microduplications, or uniparental disomy. Family members seeking carrier or predisposition status for known genomic deletions or duplications may also utilize this test.
Special Instructions
Not provided.
Limitations
The test utilizes chromosomal microarray analysis, which is capable of detecting certain types of copy number variants (CNVs) and regions of homozygosity. However, it cannot detect balanced chromosomal rearrangements, low-level mosaicism, point mutations, or imbalances in the mitochondrial genome. Furthermore, the minimal detectable CNV size varies depending on the targeted regions. Failure to detect a genetic alteration does not exclude the diagnosis of a genetic disorder associated with that locus.
Methodology
Microarray
Biomarkers
Unknown CNV
Copy Number Region
Result Turnaround Time
6-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided