Whole genome sequencing streamlines diagnosis
Answers from the Lab
Expert groups recommend whole genome sequencing for patients with congenital anomalies, developmental delay, or intellectual disability. In this test-specific episode of the "Answers From the Lab" podcast, Nicole Boczek, Ph.D., and Sarah Barnett, M.S., CGC, describe Mayo Clinic laboratories' whole genome sequencing test, which interrogates nearly every base pair of an individual's DNA.
"Genome sequencing can provide a quick diagnosis," Barnett says. "Studies have shown that broad-based genome testing resulted in direct changes to treatment recommendations in about 20% of patients, eliminated the need for additional invasive medical procedures in almost a quarter of patients, and had a clinical impact in more than half of patients."
Other genetic tests — such as exome sequencing and microarray testing — cover fewer variant classes and regions of the genome.
"Whole genome sequencing is advantageous because it can be the most comprehensive and cost-effective genetic testing method for patients who have clinical features that do not neatly fit within one specific disorder, or who have a suspected genetic disorder that may have many underlying genetic causes," Dr. Boczek says.
Listen to learn more about Mayo Clinic Laboratories' new whole genome sequencing test.
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Serving as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders, which can allow for:
Serving as a second-tier test for patients in whom previous genetic testing was negative.
Providing a potentially cost-effective alternative to establishing a molecular diagnosis compared to performing multiple independent molecular assays.
Whole Genome Sequencing: Ordering Checklist is required for all patients, and Informed Consent is required for New York clients. Fill out one form for the family and send with the specimens.
Additional Information: If a cord blood specimen is received, MATCC / Maternal Cell Contamination, Molecular Analysis, Varies will be performed at an additional charge; maternal blood sample is required.
Analytic time: 84 days
Days performed: Varies
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