Card kit

Invitae Chromosomal Microarray Analysis (CMA)

Test code: 56033

Fast turnaround

This test has a faster turnaround time than most Invitae panels.

Test description

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. Mosaicism for aneuploidy may be reported when present at or above the detection threshold of 20%.

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 the paper TRF.

Disorders tested

  • Developmental delay/intellectual disability (DD/ID)
  • Autism spectrum disorders (ASD)
  • Multiple congenital anomalies (MCA)
  • The following rows contain examples of some of the most common chromosomal abnormalities that result in DD/ID, ASD, and/or MCA. Please note that not all chromosomal abnormalities are represented here:
    • Triploidy
    • Trisomy 21 (Down syndrome)
    • Trisomy 18 (Edward syndrome)
    • Trisomy 13 (Patau syndrome) or partial trisomy 13q
    • 1p36 deletion syndrome
    • 1q21.1 duplication syndrome
    • 1q21.1 microdeletion syndrome
    • 4pter deletion (Wolf-Hirschhorn syndrome)
    • 5pter deletion (cri-du-chat syndrome)
    • 7q11.23 deletion (Williams-Beuren syndrome)
    • 7q11.23 duplication syndrome
    • 11q partial monosomy syndrome (Jacobsen syndrome)
    • 14q11-q22 deletion syndrome
    • 14q22 deletion syndrome (Frias syndrome)
    • 15q13.3 deletion syndrome
    • 15q24 deletion syndrome
    • 15q26 duplication (overgrowth syndrome)
    • 15q26-qter deletion syndrome
    • 16p11.2 deletion syndrome
    • 16p11.2 duplication syndrome
    • 16p13.11 deletion and duplication syndromes
    • 16p13.3 duplication syndrome
    • 17p12 deletion (hereditary neuropathy with liability to pressure palsies (HNPP))
    • 17p12 duplication (Charcot-Marie-Tooth disease type 1A (CMT1A))
    • 17q11.2 deletion syndrome
    • 17q12 deletion syndrome (renal cysts and diabetes syndrome (RCAD))
    • 17q12 duplication syndrome
    • 17q21.31 deletion syndrome (Koolen-De Vries syndrome)
    • 18p deletion syndrome
    • 19p13.13 deletion syndrome, Malan syndrome and Sotos syndrome 2
    • 19p13.13 duplication syndrome
    • 22q11 tetrasomy (Cat eye syndrome)
    • 22q11.21 deletion syndrome (DiGeorge)
    • 22q11.21 duplication syndrome (reciprocal to DiGeorge)
    • 22q13 duplication syndrome (SHANK3)
    • Xp11.22 duplication
    • Xq28 MECP2 duplication syndrome
    • Alpha-thalassemia intellectual disability syndrome, also known as ATR-16 syndrome
    • Miller-Dieker lissencephaly syndrome (MDLS)
    • Neurofibromatosis type I (NF1)
    • Potocki-Lupski syndrome
    • Prader-Willi/Angelman syndrome
    • Smith-Magenis syndrome
    • Thrombocytopenia absent radius (TAR) syndrome
    • Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome (WAGR)

Ordering information

Turnaround time:

10-12 calendar days

New York approved:

No

Preferred specimen:

4mL blood in an EDTA (purple top) tube, buccal swabLearn more about specimen requirementsRequest a specimen collection kit

Clinical description

To view the complete clinical description of this panel, click here.

Clinical description

To view the complete clinical description of this panel, click here.

Assay information

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 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 Labcorp Genetics (1400 16th Street, San Francisco, CA 94103).

Assay information

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 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 Labcorp Genetics (1400 16th Street, San Francisco, CA 94103).
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Invitae Chromosomal Microarray Analysis (CMA)

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