Chromosomal Microarray
Identify clinically significant chromosomal abnormalities
Our chromosomal microarray evaluations analyze more than 1.9 million copy number probes and 750,000 single nucleotide polymorphisms (SNP) probes to assess for deletions and duplications, determine their precise breakpoints and gene content, and detect regions of homozygosity. Every chromosomal microarray test performed at Mayo Clinic is supported by our American Board of Medical Genetics and Genomics-certified laboratory directors and highly credentialed genetic counselors, ensuring we not only provide test results but clinically actionable interpretations.
Chromosomal Microarray Test menu
Chromosomal microarray
Our collaborative approach to genetic testing and incorporation of companion genetic services provides enables a more detailed understanding of a patient’s genetic profile.
- Manual review of software output.
- Examination of every copy number finding, regardless of size.
- Integration of historical data on common benign polymorphisms and previously reported abnormalities.
- Accurate, up-to-date abnormality classification through extensive literature and database review.
- Performance of parental studies, when necessary, to determine if the chromosomal abnormality is inherited or de novo; benign or pathogenic; and if future pregnancies are at risk.
- Determination of maternal cell contamination to assess if fetal (not maternal) DNA is available for analysis from prenatal specimens.
Key testing
- CMACB | Chromosomal Microarray, Congenital, Blood
- Can be used as a first-tier, post-natal test for individuals with multiple abnormalities not specific to well-delineated genetic syndromes, apparently nonsyndromic developmental delay or intellectual disability, or autism spectrum disorders.
- Useful as a follow-up test for individuals with congenital abnormalities with a previously normal conventional chromosome study.
- CMAP | Chromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling
- Clarifies findings in patients with a pregnancy demonstrating one or more structural abnormalities on ultrasound when undergoing invasive prenatal diagnosis.
- Recommended by the American College of Obstetricians and Gynecologists and Society for Maternal-Fetal Medicine.
- CMAPC | Chromosomal Microarray, Autopsy, Products of Conception, or Stillbirth, Varies
- CMAMT | Chromosomal Microarray, Autopsy/Products of Conception/Stillbirth, Tissue
- Can assist in detecting causative abnormalities in cases of intrauterine fetal demise or stillbirth.
- Increases the success rate of obtaining results and improves detection.
- Is available on both fresh and formalin-fixed, paraffin-embedded tissue to expand clinical situations in which testing can be used.
Highlights
In this month's "Hot Topic," Nicole Boczek, Ph.D., assistant professor and laboratory director in the Department of Laboratory Medicine and Pathology, and Sarah Barnett, M.S., CGC, discuss diagnostic exploratory testing, explain why it’s important to the field of many specialty practice areas, and help determine which testing may be the most valuable for a given patient.
Molecular biomarkers are a critical component in the treatment of adult and pediatric brain tumors. Robert Jenkins, M.D., Ph.D., explains how Mayo Clinic Laboratories' chromosomal microarray provides more comprehensive and accurate tumor analysis compared with other test methods.