Invitae Chromosomal Microarray Analysis (CMA)
Use
The Invitae Chromosomal Microarray Analysis (CMA) is intended to aid in the diagnosis of chromosomal abnormalities associated with developmental disorders. These include developmental delay (DD), intellectual disability (ID), multiple congenital anomalies (MCA), dysmorphic features, autism spectrum disorders (ASD), seizures, and epilepsy. This test reports detected whole and segmental aneuploidies, submicroscopic copy number variations (CNVs) that cannot be detected by conventional karyotype, size and gene content of CNVs, regions of homozygosity, and uniparental isodisomy.
Special Instructions
The Invitae Familial Chromosomal Microarray Analysis (CMA) can be offered as a next step for testing family members. CMA can only determine if the family member carries the detected variant and may aid in the reclassification of variants of uncertain significance. CMA is not recommended for unaffected family members when a structural rearrangement is suspected in the proband. Other cytogenetic tests not offered by Invitae, such as FISH or karyotype, may be warranted in those scenarios.
Limitations
CMA is unable to identify balanced structural rearrangements, including translocations, insertions and/or inversions. It does not qualify for Invitae’s Family Variant Testing (FVT) or VUS Resolution programs. Mosaicism for aneuploidy may be reported when present at or above the detection threshold of 20%.
Methodology
Microarray
Biomarkers
Result Turnaround Time
10-12 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4mL
Minimum Volume
Not provided
Container
EDTA (purple top) tube