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Looking for exome sequencing? Explore the benefits here

Find answers with genome sequencing

Comprehensive genomic clarity. One test.

GeneDx genome sequencing offers comprehensive genomic insights tailored to your clinical needs—whether it be urgent, complex, or routine. 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 
Genome sequencing for infant in the NICU

Caring for patients in the NICU?

Critically ill infants with genetic disorders face increased risks and longer hospital stays.1,2 Rapid genome sequencing provides early, precise diagnosis—enabling faster care decisions and improved outcomes.

Learn more about rapid & ultra rapid genome

GeneDx genome test options

GenomeSeqDx Icon

GeneDx Genome Sequencing, GenomeSeqDx

Comprehensive analysis ideal for complex cases.

Provides results in 4 weeks.†

Select from trio, duo, or proband test options.

GenomeXpress Icon

GeneDx Rapid Genome Sequencing, GenomeXpress®

Accelerated insights when every day counts.

Provides results within 5 days.†

Select from trio, duo, or proband test options.

UltraRapid Genome Sequencing Icon

GeneDx ultraRapid
Genome Sequencing

The fastest results for clinical urgency.

Provides results within 3 days.†

Available as a proband only.

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To learn about which plans cover outpatient genome testing, please visit our outpatient genome coverage page.

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 unexplained hypotonia.5

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.