Genetic & Rare Diseases

Empowering early discovery and intervention

We’re dedicated to improving the path to diagnosis for families affected by genetic and rare diseases

Advancing Genetic Disease Testing

Our technology is helping to drive breakthroughs in genetic disease testing by facilitating identification of disease-causing genetic variants. We recognize the significant impact of genetic and rare diseases on families worldwide, and we’re developing solutions to facilitate early detection and intervention. A genetic diagnosis can help improve outcomes, promote enduring good health, and raise awareness about the importance of genetics in health care.

Genetic disorders and congenital anomalies are primary contributors of hospitalization and mortality in infants.1 At least 39% of rare diseases have an identifiable genetic etiology.2 For adults, 25% of sudden cardiac arrest is due to an inherited genetic condition.3,4 Our genetic disease testing technologies can help you identify causative variants and chromosomal aberrations, and may enable early discovery of disease.

Genetic Testing for Rare Diseases

2–6% of the population worldwide is affected by a rare disease.6,7 80% of these rare diseases have a genetic component,8 but many patients struggle for years to receive a diagnosis. We are committed to ending these diagnostic odysseys with genetic disease testing solutions that can increase the likelihood of a diagnosis.

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Cardiovascular Genomics

Sudden cardiac arrest is one of the leading causes of nontraumatic mortality in the US. Next-generation sequencing (NGS) gene panels can provide comprehensive coverage of genes with known associations to inherited heart conditions.

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Genomic research has uncovered genes linked to Alzheimer’s disease, multiple sclerosis, Huntington’s disease, and Parkinson’s disease. Today, neurogenetics and neurogenomics are significant contributors to how we understand the biology of neurodegeneration.

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Genetic Disease Testing Stories

Ending the Diagnostic Odyssey

Whole-genome sequencing for rare genetic disease can lead to a diagnosis in days, potentially helping parents avoid months or years of inconclusive tests. Listen to Dr. Vandana Shashi of Duke University and Kimberly LeBlanc of the Undiagnosed Diseases Network discuss how sequencing can shorten the diagnostic odyssey for patients with rare disease.

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A Diagnosis for Sophia

After seven years and dozens of specialists, genetic tests, and MRIs, Sophia and her family were exhausted and left without an answer. Two years later, whole-genome sequencing enabled Sophia’s medical team to identify a mutation in the WDR45 gene and diagnose her with Beta-propeller protein-associated neurodegeneration (BPAN).

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Whole-Genome Sequencing for Genetic Disease

Whole-genome sequencing (WGS) is the most comprehensive test for detecting multiple variant types in a single assay.10‑17 Historically, the size and complexity of the human genome made WGS challenging. Recent innovations in the field make WGS more accessible, with shorter, automation-friendly library prep and powerful interpretation tools.

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Related Solutions

Human Whole-Genome Sequencing

Our sample-to-report WGS workflow is built on years of genomic innovation for high-accuracy, high-confidence variant detection.

TruSight Software Suite

TruSight Software Suite brings the collective power of genetic analysis tools into a single interface for rapid variant interpretation in genetic and rare disease.

Illumina DNA PCR-Free Prep

This prep features our latest technology innovations and offers flexibility and sensitivity for human whole-genome sequencing, delivering libraries in < 2 hours.

  1. Farnaes L, Hildreth A, Sweeney NM, et al. Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization. NPJ Genom Med. 2018;3:10.
  2. Hartley T, Lemire G, Kernohan KD, Howley HE, Adams DR, Boycott KM. New diagnostic approaches for undiagnosed rare genetic diseases. Annu Rev Genomics Hum Genet. 2020;21:351-372. doi:10.1146/annurev-genom-083118-015345.
  3. Deo R, Albert CM. Epidemiology and genetics of sudden cardiac death. Circulation. 2012;125(4):620-637.
  4. Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies. Europace. 2001;13(8):1077-1109.
  5. Nguengang Wakap, S., Lambert, D.M., Olry, A. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 2020;28:165–173.
  6. Ferreira CR. The burden of rare diseases. Am J Med Genet A. 2019;179(6):885-892. doi:10.1002/ajmg.a.61124
  7. Walker et al. The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort. Genet Med. 2017;19(5):546-552.
  8. Bick D, Jones M, Taylor SL, et al. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. Journal of Medical Genetics 2019;56:783-791
  9. Zipes DP, Wellens HJ. Sudden cardiac death. Circulation. 1998;98(21):2334-2351.
  10. Lionel AC, Costain G, Monfared N, et al. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med. 2017; Aug 3. doi: 10.1038/gim.2017.119.
  11. Sanghvi RV,Buhay CJ, Powell, V et al. Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genet Med. 2017; doi:
  12. Dolzhenko E, van Vugt JJ, Shaw RJ, Bekritsky, et al. Detection of long repeat expansions from PCR-free whole-genome sequence data. Genome Res. 2017; Sep 8. doi: 10.1101/gr.225672.117 page 5-page 6.
  13. Gross A, Ajay SS, Rajan V, et al. Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease. Genetic Med. 2019;21(5):1121-1130.
  14. Alfares A, Aloraini T, Subaie LA, et al. Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing. Genet Med. 2018;20(11):1328-1333.
  15. Lindstrand A, Eisfeldt J, Pettersson M, et al. From cytogenetics to cytogenomics: whole genomes sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. Genome Med. 2019;11(1):68.
  16. Chen X, Sanchis-Juan A, French CE, et al. Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genet Med. 2020;22:945-953.
  17. Chen X, Schulz-Trieglaff O, Shaw R, et al. Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications. Bioinformatics. 2016;32(8):1220–1222.