Test code: 56033
Fast turnaround
This test has a faster turnaround time than most Invitae panels.
The Invitae Chromosomal Microarray Analysis (CMA) is intended to aid in the diagnosis of chromosomal abnormalities associated with developmental disorders, including 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.
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 does or does not carry the detected variant and may aid in the reclassification of variants of uncertain significance in certain circumstances. Furthermore, CMA is unable to identify balanced structural rearrangements, including translocations, insertions, and/or inversions, and is, therefore, not recommended for unaffected family members when a structural rearrangement is suspected in the proband. Other cytogenetic tests not offered by Invitae, such as fluorescence in situ hybridization (FISH) or karyotype, may be warranted in those scenarios. Invitae CMA does not qualify for Invitae’s Family Variant Testing (FVT) or VUS Resolution programs, so all Familial CMA orders will be charged regardless of classification. To order CMA on family members, please visit here for paper TRF.
Turnaround time:
10-12 calendar daysNew York approved:
NoPreferred specimen:
4mL blood in an EDTA (purple top) tube, buccal swabLearn more about specimen requirementsRequest a specimen collection kitTo view the complete clinical description of this panel, click here.
Invitae Chromosomal Microarray Analysis uses an Illumina single nucleotide polymorphism (SNP) array containing 1.8 million probes covering both coding and non-coding human genome sequences targeted to more than 4,800 key genes across the genome with an average spatial resolution between probes of 1.5 kb. This array is designed to identify numeric chromosomal abnormalities, unbalanced structural rearrangements, and copy number changes genome-wide in regions of known clinical significance (recognized microduplication/microdeletion syndromes) and across the genomic backbone. Extracted genomic DNA is evaluated for copy number changes involving ≥ 16 probes and for regions of homozygosity ≥ 5 Mb. Mosaicism for partial or whole chromosome aneuploidy may be reported when present at or above the detection threshold of 20%. Reportable events are described using Human Genome Build 19 (NCBI build 37, Feb 2009). This test was performed by Invitae Corporation (1400 16th Street, San Francisco, CA 94103).