In July 2021, The American College of Medical Genetics and Genomics (ACMG) released practice guidelines recommending that exome and genome sequencing be considered a first- or second-tier test for pediatric patients with congenital anomalies, developmental delay, or intellectual disability.1
ACMG’s systematic evidence-based review on the impact of exome and genome sequencing in this patient population found:
- Exome and genome sequencing had a higher diagnostic yield than standard genetic testing (ex. single gene, panels, CMA).
- Increased evidence of therapeutic benefit.
- Lower cost per diagnosis when exome or genome sequencing (ES/GS) is used as a first- or second-tier test in the diagnostic evaluation process.
- Clinical utility and desirable outcomes for patients and their families.
PerkinElmer Genomics is an industry leader in whole exome and whole genome sequencing, offering these best-in-class services in alignment with ACMG guidelines.2
Select features of PerkinElmer Genomics tests:
- Captures 1-2% of the genome
- Identifies variants across a wide range of applications
- Achieves comprehensive coverage of coding regions
- Efficient method for identifying possible disease-causing mutations
- Add CNGnome® or StepOne® for enhanced variant interpretation and/or detection
- Sequences all exons, introns, and mitochondrial DNA
- Reliable detection of deletions and duplications (≥ 3 exons)
- SMN1 copy number characterization for spinal muscular atrophy
- Short tandem repeat screening for 35 genes
- Ability to detect structural variants
Our test offerings are designed to answer complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families.
Phenotypic-driven analysis performed by genetics experts ensures you get the results that matter most for your patients’ care.
Our options for the return of secondary findings can be tailored to fit the individual needs of you and your patients.
With our global network of PerkinElmer Genomics laboratories, our analysis is backed by robust data, enriched with information for underrepresented patient populations.
With a depth of resources like patient-friendly test guides, an easy-to-use ordering portal, a variety of flexible specimen collection kits, and billing and payment options that offer financial peace of mind, PerkinElmer Genomics is here to assist you with the seamless implementation of exome or genome sequencing in your practice.
REFERENCES
1. Manickam 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; 23:2029–2037.
2. Internal PerkinElmer Genomics data as of March 2022.