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:

Takes 6+ years on average to find a diagnosis1
Sees an average of 17 healthcare providers1
 $  k
Spends $26,000 more on average for medical costs1

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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Getting started

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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Documents needed for testing

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