Rare Genetic Disorders
Diagnosing rare disorders to enable precision medicine
Multiple office visits. Complex testing. Invasive procedures. Diagnosing a rare disorder often means an extensive work-up. A person with a rare condition:
Simplify genetic testing
We simplify the traditional genetic testing model using a whole genome sequencing (WGS) and analysis platform. Our unique method allow flexible analyses from a custom set of genes, to condition specific panels, to the exome or whole genome. This leads to the highest chance of diagnosis by enabling analysis of all major types of variants at once, with a single sample.
Our whole genome analysis platform
Our clinically validated whole genome analysis platform can assess all major genetic variants, whether analyzing a single gene, a panel of genes, an exome, or a genome.
Sequence analysis
including single nucleotide variants, deletions/insertions, intronic, and regulatory variants
Structural and copy number variant analysis
including duplications, deletions, regions of homozygosity, mobile element insertions, inversions, and aneuploidy
Short tandem repeat expansion analysis
more than 36 genes
Mitochondrial genome analysis
with heteroplasmy and large deletions
Common areas for targeted and comprehensive testing include:
Ataxia disorders
Epilepsy disorders
Intellectual disability & neurodevelopmental disorders
Motor neuron disorders
Movement disorders
Muscular dystrophies
Neuromuscular disorders
Neuropathy disorders
Mitochondrial disorders
Endocrine disorders
To learn more about the clinical performance of Genomic Intelligence®, see our publications
Clinical Validation Study
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White Paper
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We work with many public and private health insurance companies and have a patient assistance program available to make testing as accessible as possible. Learn more about our:
Comprehensive & targeted tests
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Billing information and practices
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