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Chromosomal microarray analysis

Quest helps you harness the power of chromosomal microarray analysis (CMA)

Understanding and diagnosing the potential causes of genetic conditions is an essential first step in optimizing an effective treatment plan. CMA is recommended for individuals thought to have a medical condition associated with a chromosomal deletion or duplication. A missing or extra piece of chromosomal material can arise due to random occurrence or be inherited from a parent.

Quest offers a complete range of CMA tests

CMA is available as part of the genetic evaluation in neurology, women’s and reproductive health, and oncology.

a Not every case of autism will have a detectable genetic cause through CMA testing alone.

Chromosomal microarray analysis (CMA) identifies chromosomal deletions and duplications and helps healthcare providers to determine the genetic etiology of their patient's conditions. These missing or additional pieces of chromosomal material may explain why your patient has a particular disease. CMA can help you determine whether your patient’s condition may be caused by microdeletion or microduplication.

CMA from Quest Diagnostics uses gold standard technology—an array that evaluates


This helps physicians and patients understand the origins of the conditions being assessed and make more informed treatment decisions.

The American College of Medical Genetics (ACMG) recommends CMA testing as a first-line genetic test for the initial postnatal evaluation of individuals with

Non-syndromic developmental delay/intellectual disability1

Autism spectrum disorders1a

Multiple congenital anomalies or dysmorphic features1

Research shows that early intervention treatment services can greatly improve a child’s development.2 In a postnatal setting, a provider may order a CMA test shortly after birth or later during early childhood development. CMA is widely acknowledged as a first-tier test in the pediatrics setting.

a Not every case of autism will have a detectable genetic cause through CMA testing alone.

The ClariSure® Oligo-SNP (oligonucleotide-single nucleotide polymorphism) Postnatal CMA contains over 2.6 million probes, including 1.9 million copy number probes and 750,000 SNP probes. It can confirm the diagnosis of suspected conditions associated with known chromosomal syndromes and is especially well-suited for determining the genetic cause of less well-described disorders associated with chromosomal copy number variants. The oligo-SNP format provides extensive information across the genome allowing precise detection of regions of homozygosity, which may be suggestive of uniparental disomy or consanguinity.

Benefits of ClariSure® Oligo-SNP Postnatal CMA:

  • Determine the genetic etiology of congenital anomalies during the initial postnatal evaluation of newborns and the genetic etiology of developmental delay, intellectual disability, and autism spectrum disordersa
  • Confirm or exclude the diagnosis of known chromosomal syndromes
  • Further define ambiguities arising from cytogenic or FISH studies
  • Assist in clinical management and genetic counseling
a Not every case of autism will have a detectable genetic cause through CMA testing alone.

Quest is powered by a reliable network of experts and has over 40 years of genetic testing experience. Our dedicated Genomic Client Services team includes board-certified geneticists, genetic counselors, genomic science specialists, and other genetic care experts. Direct access to the team is available daily from 8:30 AM–8:00 PM EST at 1.866.GENE.INFO (1.866.436.3463) or by emailing DGXGeneInfo@questdiagnostics.com. Clinicians can get help with test selection and results interpretation, and patients can get post-test consultation on any Quest genetic test.

CMA tests available at Quest Diagnostics

In women’s health, prenatal and products of conception (POC) CMAs are designed to investigate cytogenetic abnormalities that are often associated with pregnancy loss and abnormal ultrasound findings.
 

Test code Test name Turnaround time
90929 Chromosomal Microarray, POC, ClariSure® Oligo-SNP 10-14 days
39029 Chromosomal Microarray, POC FFPE, ClariSure® Oligo-SNP  10-14 days
90927 Chromosomal Microarray, Prenatal, ClariSure® Oligo-SNP  10-14 days

Determine the genetic etiology of congenital anomalies during the initial postnatal evaluation of newborns and the genetic etiology of developmental delay, intellectual disability, and autism spectrum disorders.
 

Test code Test name Turnaround time
16478 Chromosomal Microarray, Postnatal, ClariSure® Oligo-SNPL 10-14 days
39029 Chromosomal Microarray, Postnatal Familial Follow-up,
ClariSure® Oligo-SNP		 10-14 days
*Not every case of autism will have a detectable genetic cause through CMA testing alone.
Read more about our CMA offering
Access our CMA prior authorization form

In oncology, hematologic malignancy and solid tumor formalin-fixed paraffin-embedded (FFPE) CMA can help identify genomic imbalances that may be associated with cancer gene variants, as well as assess the prognosis and disease progression for conditions such as leukemia, lymphoma, and myelodysplastic syndromes (MDS).
 

Test code Test name Turnaround time
38842 Chromosomal Microarray, Solid Tumor FFPE,
ClariSure® Oligo-SNP		 10-14 days
90961 Chromosomal Microarray, Hematologic Malignancy,
ClariSure® Oligo-SNP		 10-14 days

The power of Quest

Seamlessly interfaced
with 920+ EMRs

Access to 700+ MDs and PhDs, genetic counselors, and biostatisticians to support high-quality care

In-network with more than 90% of US health plans and payers

Turnaround times that are among the fastest in the industry

References

  1. Manning M, Hudgins L, Professional Practice and Guidelines Committee. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med. 2010;12(11):742-745. doi:10.1097/GIM.0b013e3181f8baa0
  2. Lord C, McGee JP, eds. Educating Children with Autism. Washington, DC: The National Academies Press. 2001.

Questions?

For direct access to the Genomic Client Services team, call 1.866.GENE.INFO (1.866.436.3463) from 8:30 AM-8:00 PM EST for answers, reports, results interpretation, and post-test consultation.

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