We provide large-scale human DNA, RNA and methylome sequencing and analysis to assist in gene discovery, diagnosis and research for pediatric genetic diseases.
Exome Sequencing
We offer exome sequencing to find a molecular diagnosis in families with children who have had an extensive negative work-up for a genetic disease. We also use exome sequencing to identify novel disease genes.
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STAT-Seq
STAT-Seq is the fastest clinical whole genome analysis in the world, taking only 50 hours from test ordering to delivery of an interim report to the ordering neonatologist.
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Genome Research
Many aspects of our research initiatives involve collaborating with other top-notch research institutions.
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TaGSCAN Diagnostic Test
The Targeted Gene Sequencing and Custom Analysis (TaGSCAN)
test is a novel, targeted screening panel covering the coding
region of 514 genes known to cause severe diseases with childhood
onset.
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