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