Identifying clinically significant chromosomal abnormalities
Chromosomal microarray (CMA) testing generates large amounts of complex data that requires a high level of expertise to accurately assess and classify each abnormality detected. Our laboratory directors and genetic counselors review thousands of microarray tests each year and are actively involved in the field of genomics, helping to create testing standards and shape practice guidelines.
Our staff includes American Board of Medical Genetics and Genomics certified laboratory directors along with highly credentialed and qualified genetic counselors. Every CMA test performed at Mayo Clinic is supported by the experience and expertise of our laboratory directors and genetic counselors, ensuring we not only provide test results but clinically actionable interpretations.
Diagnostic prenatal testing
The American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine recommend CMA in patients with a pregnancy demonstrating one or more major structural abnormalities on ultrasound when undergoing invasive prenatal diagnosis.
In cases of developmental delay and birth defects
The American College of Medical Genetics and Genomics recommends CMA as a first-tier, postnatal test for individuals with multiple anomalies that are not specific to well-delineated genetic syndromes, apparently nonsyndromic developmental delay or intellectual disability, or autism spectrum disorders. CMA is also an appropriate follow-up test for individuals with congenital anomalies with a previously normal conventional chromosome study.
In cases of intrauterine fetal demise or stillbirth
The ACOG recommends CMA analysis of fetal tissue (e.g., amniotic fluid, placenta, or products of conception) in cases of intrauterine fetal demise or stillbirth. CMA testing increases the success rate of obtaining results and improves detection of causative abnormalities. This testing is also available on both fresh and formalin-fixed, paraffin-embedded tissue, expanding the clinical situations in which this testing can be used.
Webinar - Chromosome Analysis vs. Chromosomal Microarray
In a rapidly advancing field, selecting the appropriate genetic tests can be a challenging task. Chromosome analysis, which was once the preferred genetic test for a wide variety of congenital abnormalities, is now one of the most frequently mis-ordered genetic tests at Mayo Clinic Laboratories.
Learn more about how to order these tests at your institution.