A service break in our online ordering portal Nucleus is scheduled to start on August 21 at 9pm (EEST)/ August 21 at 2pm (EST)/ August 22 at 4am (AEST) and it is estimated to end on August 23 at 9pm (EEST)/ August 23 at 2pm (EST)/ August 24 at 4am (AEST). Nucleus will not be accessible during this time. We apologize for the inconvenience.
Talk: Optimizing Whole Exome Sequencing Assays for Clinical Diagnostic of Rare Diseases
Apr 23, 2018
Blueprint Genetics Senior Geneticist Jennifer Schleit, PhD, FACMG, gave a talk on Optimizing Whole Exome Sequencing Assays for Clinical Diagnostic of Rare Diseases at ACMG 2018. Find out why high-quality exome is so important.
“Using a high-quality exome maximizes the likelihood of finding a diagnosis for your patient,” Jennifer Schleit says.
Whole Exome Sequencing
Our high-performance Whole Exome Sequencing has excellent coverage for several difficult-to-sequence genes and 1501 clinically relevant intronic variants included.
Highly uniform sequencing depth across all protein-coding genes
Please be advised that a specimen collection kit must be requested by a medical professional.
If you are a patient or family member of a patient, please contact your provider to place a kit order on your behalf.