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Clinical Genomics
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GenomeNext™ and GenomeReveal™

GenomeNext™ delivers comprehensive whole genome sequencing (WGS) built to solve some of the toughest diagnostic hurdles – bringing clear, equitable answers to all patients throughout their life’s journey.

GenomeNext™ is now available for ordering through AmbryPort™.

A more equitable genome, intentionally developed to deliver answers for every patient.

Why choose GenomeNext?

Whole genome sequencing can provide a diagnosis for over 40% of patients on average. By analyzing exomic, intronic, and mitochondrial variants simultaneously, WGS creates an unparalleled opportunity to find answers earlier in the diagnostic journey.

Key capabilities

Reduced population bias

Using a pangenome-enabled reference reduces historical bias and significantly improves variant detection across diverse and underrepresented populations.

Functional RNA evidence

GenomeReveal™ adds supplemental RNA analysis to GenomeNext™ when clinically relevant variants requiring functional evidence are identified during genome analysis.

RNA analysis can provide additional insight into the impact of variants on:

  • RNA splicing
  • Gene expression
  • Functional impact

By providing additional biological evidence, GenomeReveal™ may help improve confidence in variant interpretation.

Long-term value

Through Patient for Life™, results undergo continuous, lab-driven reanalysis to uncover new answers as genomic knowledge and gene-disease relationships evolve.

[1] Trio testing is recommended when biological relatives are available and consent to testing, as parental samples provide additional inheritance information to support interpretation. [2] Requires EDTA (DNA) and PAXgene (RNA) specimens. [3] Reports include option for ACMG-recommended secondary findings results, for all genome-sequenced individuals as part of the duo/trio. [4] GenomeNext™ currently includes analysis of select clinically relevant STR expansions, including Fragile X (FMR1), Myotonic Dystrophy Type 1 (DMPK), and Congenital Central Hypoventilation Syndrome (PHOX2B).

Genes analyzed
Code
Test Name
Turnaround
Genes
–
GenomeNext™ and GenomeReveal™
–
Whole Genome
GenomeNext™ and GenomeReveal™
Whole Genome
Whole Genome
Why Is This Important?

A genetic diagnosis can provide clarity for patients and families while helping guide personalized medical care. Benefits may include:

  • Informing medical management, screening, and specialist referrals
  • Guiding treatment decisions and clinical trial opportunities
  • Supporting family planning and future care decisions
  • Connecting families with condition-specific resources and communities
When To Consider Testing

Whole genome sequencing is a comprehensive testing approach recommended for the evaluation of:1-4

GenomeNext™ may also be considered when previous genetic testing has been negative or inconclusive.

Professional Society Guidance Supports WGS

Test Description

GenomeNext™ uses whole genome sequencing and advanced bioinformatics analysis to evaluate nuclear genes, mitochondrial DNA, and additional genomic regions beyond the coding regions assessed by exome sequencing.

Variants are analyzed using Ambry’s proprietary bioinformatics pipeline and interpreted by a team of genetic experts using:

  • Clinical phenotype and HPO terms
  • Inheritance models
  • Current gene-disease knowledge
  • Variant quality and clinical relevance

GenomeNext™ evaluates multiple variant classes, including:

  • Single nucleotide variants (SNVs)
  • Small insertions and deletions (indels)
  • Copy number variants (CNVs)
  • Structural variants (SVs)
  • Mitochondrial variants
  • SMN1 and SMN2 analysis for copy number changes associated with spinal muscular atrophy (SMA)
  • Short tandem repeats (STRs)*

*GenomeNext™ currently includes analysis of select clinically relevant STR expansions, including Fragile X (FMR1), Myotonic Dystrophy Type 1 (DMPK), and Congenital Central Hypoventilation Syndrome (PHOX2B). Ambry continues to expand STR analysis capabilities as genomic knowledge and technology advance.

 

References: 

1Wojcik, M. H., et al. Genome Sequencing for Diagnosing Rare Diseases. NEJM. 2024;21:1985–1997.

2Manickam K et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(11):2029-37. doi: 10.1038/s41436-021-01242

3Smith, L., Malinowski, J., Ceulemans, S., et al. Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the NSGC. J Genet Couns 32, 266–280 (2023).

4Lance H. Rodan, MD; Joan Stoler, MD, FAAP; Emily Chen, MD, PhD; Timothy Geleske, MD, FAAP; Council on Genetics Pediatrics (2025) 156 (1): e2025072219. https://doi.org/10.1542/peds.2025-072219