Mayo Clinic Laboratories > Genetics > Hereditary testing by specialty > Exploratory testing

Exploratory testing

Individualized insights for personal care

While both whole exome sequencing (WES) and whole genome sequencing (WGS) interrogate all genes in the human genome, WGS is more comprehensive in the variant classes it can identify. This type of genetic diagnosis allows for tailored medical management and treatment guidance for patients. Studies have shown that around 20% of patients had direct changes to care based on WES or WGS results.

Mayo Clinic Laboratories’ whole exome and whole genome testing is backed by a team of experienced laboratory directors, genetic counselors, and variant scientists. Test results are interpreted by this collaborative team, who consider previous evaluations and test results from genetic studies, biochemical testing, and imaging studies as part of the genetic data review. Genetic disease experts are available to answer questions about test findings or the need for additional testing.

Chromosomal microarray Chromosomal microarray
chromosomal microarray

Every chromosomal microarray 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.

Whole exome sequencing Whole exome sequencing
whole exome sequencing

Our whole exome sequencing (WES) test investigates approximately 20,000 genes in patients with suspected hereditary disorders. WES is recommended for individuals with congenital abnormalities, as well as for patients with developmental delay or intellectual disability diagnosed prior to age 18 and those with clinical features or family histories suggestive of underlying genetic disease but not distinguishable through other genetic tests.

Whole genome sequencing Whole genome sequencing
Whole genome sequencing

Whole genome sequencing (WGS) is more comprehensive and interrogates nearly every base pair of an individual’s DNA, including the mitochondrial genome. WGS can also detect variants in the non-coding region of DNA, certain spinal muscular atrophy variants, repeat expansions, and mitochondrial variants.

News and updates

The latest

Diagnostic Exploratory Testing

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.

Learn more
Familial Variant Targeted Testing (FMTT)

In this month's "Hot Topic," Megan Hoenig, M.S., M.P.H., CGC, a licensed and certified genetic counselor with the Division of Laboratory Genetics and Genomics at Mayo Clinic Laboratories, describes the principles and benefits of Familial Variant Targeted Testing (FMTT).

Whole genome sequencing streamlines diagnosis

Nicole Boczek, Ph.D., and Sarah Barnett, M.S., CGC, explain how Mayo Clinic Laboratories' whole genome sequencing provides comprehensive information for rapid diagnosis of hereditary disorders.

Whole exome sequencing for hereditary disorders

Cherisse Marcou, Ph.D., and Marissa Ellingson, M.S., CGC, discuss whole exome sequencing (WES) at Mayo Clinic Laboratories. The comprehensive evaluation uses next-generation sequencing to detect for single nucleotide variants, small insertions or deletions, and copy number variants on approximately 20,000 genes, enabling precision answers to accurately diagnose, manage, and treat patients with identified inherited illness.

Shining light on one family’s struggle: Barbara, Deborah, Pamela, and Rylie

Before testing at Mayo Clinic Laboratories, Barbara Domaille, Deborah Neville, Pamela Neville, and Rylie Ronnenberg thought there could be a genetic connection to the hip problems they shared. After the testing, they knew for sure.

Resources
Learn more Whole exome and genome sequencing information and test ordering guide
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