Mayo Clinic Laboratories > Neurology > Neurogenetics > Chromosomal microarray

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



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