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Find answers with genome sequencing

Parent and child undergoing genome sequencing.

The most comprehensive genomic insights, in one test

Genome sequencing is a comprehensive test that analyzes nearly all of an individual’s DNA, which is known as their genome. This process decodes the set of genetic instructions that direct our body’s function, from growth and development to metabolism and immune responses. The result is a detailed map that could provide insight into genetic variations that might contribute to disease, genetic predispositions, or potential responses to treatments.

Genome sequencing for infant in the NICU.

Do you care for pediatric patients in the NICU?

Infants with genetic disorders often experience a higher risk of mortality, increased resource utilization, and prolonged hospital stays.1,2 For critically ill infants, rapid genome sequencing can enable an early and precise diagnosis, transforming patient care and improving outcomes.

Learn more about rapid genome

Genome is recommended as a first-line test

  • The National Society of Genetic Counselors (NSGC) recommends genome or exome as a first-line test for all individuals with unexplained epilepsy and this guideline is endorsed by the American Epilepsy Society (AES).3
  • The American College of Medical Genetics and Genomics (ACMG) recommends genome or exome as a first-line test for developmental delay, intellectual disability, and congenital anomalies.4
  • The International Precision Child Health Partnership (IPCHiP) recommends genome or exome as a first-line test for NICU patients with explained hypotonia.5

GeneDx genome sequencing

GeneDx genome sequencing simultaneously evaluates the protein-coding and non-coding regions of an individual’s nuclear genome. Additionally, this test includes mitochondrial genome sequencing and deletion analysis, as well as screening for repeat expansion disorders associated with the following genes:

  • AR* 
  • ARX (PA1) 
  • ATN1* 
  • ATXN1*
  • ATXN2* 
  • ATXN3*
  • ATXN7* 
  • ATXN8/ATXN8OS*
  • C9orf72*
  • CACNA1A*
  • CNBP*
  • DMPK
  • FMR1
  • FXN
  • HOXD13  
  • PABPN1* 
  • PHOX2B 

Test options

GenomeSeqDx
provides results in 4 weeks.†

Select from trio, duo, or proband test options.

GenomeXpress®
provides results within 5 days.†

Select from trio, duo, or proband test options.

With comprehensive care from start to finish, GeneDx offers more than a test result.
Experience the GeneDx difference and help your patients find answers.
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* These conditions typically have adult onset, and current reporting is phenotype driven. 

† Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control. 

References: 1. Farnaes L, Hildreth A, Sweeney NM, et al. NPJ Genom Med. 2018 Apr 4;3:10. doi: 10.1038/s41525-018-0049-4. 2. NICUSeq Study Group et al. JAMA Pediatr. 2021;175(12):1218-1226. doi:10.1001/jamapediatrics.2021.3496. 3. Smith L, Malinowski J, Ceulemans S, et al. J Genet Couns. 2022 Oct 24; 32:266–280. Doi.org/10.1002/jgc4.1646. 4. Manickam K, McClain MR, Demmer LA, et al. Genet Med. 2021;23(11):2029-2037. doi: 10.1038/s41436-021-01242. 5. Morton SU, Christodoulou J, Costain G, et al. JAMA Neurol. 2022 Apr 1;79(4):405-412. doi:10.1001/jamaneurol.2022.0067.