Rapid Prenatal Whole Genome Chromosomal Microarray (CMA-ISCA) Test
Use
This test is designed for individuals requiring rapid chromosomal analysis during an ongoing pregnancy. Indications for this test include abnormal fetal ultrasound findings, abnormal non-invasive prenatal testing (NIPT) screening, abnormal maternal serum screening, advanced maternal age, or cases involving invasive prenatal testing. It is also used for evaluations related to family history of balanced rearrangement, stillbirth, neonatal deaths, and spontaneous pregnancy loss. The chromosomal microarray (CMA) approach is used to detect copy number variants (CNVs) associated with genomic disorders and provides higher diagnostic yield than traditional karyotyping.
Special Instructions
Not provided.
Limitations
CMA can only detect gross genomic copy number imbalances and long contiguous stretches of homozygosity (LCSH). It cannot detect low levels of mosaicism, balanced chromosomal rearrangements, point mutations, indels, or mitochondrial genome imbalances. Additionally, the test may miss certain forms of UPD disorders and cannot determine the origin of alterations (paternal, maternal, or de novo). Parental testing may be necessary for more comprehensive interpretation.
Methodology
Chromosomal / Cytogenetics (Microarray)
Biomarkers
Unknown CNV
Copy Number RegionUnknown CNV
Copy Number Region
Result Turnaround Time
6-10 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
Not provided
Minimum Volume
Not provided