rare disease
For just under $3,000, the company analyzes DNA from a child's saliva sample by whole-genome sequencing, screening for genetic variants associated with more than 300 diseases.
Garvan Institute Gets A$11.6M From Australian Government to Develop Genomics-Based Disease Tests
Four teams will use genomics to improve the diagnosis and treatment of diseases including Parkinson's, inflammatory bowel disease, and rare genetic disorders.
Fetal Exome Sequencing Studies Point to Noninvasive Prenatal Screening Applications
New research suggests trio exome sequencing on parental DNA samples and cell-free DNA from maternal plasma can successfully uncover clinically relevant fetal variants.
Germany to Test Genomics-Based Precision Medicine for Cancer, Rare Disease in National Pilot Project
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With reimbursement from public health insurance, the "model project" will run for at least five years and examine the utility of genomic sequencing for advanced cancer and rare disease patients.
Pacific Biosciences, GeneDx, Google Health Partner With New York Center for Rare Diseases
A pilot project will perform genomic testing on 50 patient-parent trios to see if PacBio's long-read sequencing can identify genetic alterations.