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PGmax Tests

Summary

PGmax™ tests are our large panels of more than 300 genes. These tests include exome-wide copy number variant (CNV) or genome-wide structural variant (SV) - depending on which platform you choose.

Why PGmax Tests?

Smaller than WES and WGS:

  • Reduced cost
  • Most have a standard TAT of 3 weeks**
  • Still utilizes clinical notes for individualized analysis

Larger than a standard gene panel:

  • The “hypothesis-free” nature of PGmax tests make them a better diagnostic tool for patients with nonspecific features1
  • The true molecular diagnosis can be missed with single-gene or small panel testing2
  • Gene curation can be done in real time based on your patient's individual phenotype rather than relying on the static gene curation of a small panel3
  • Patients may have a blended phenotype resulting from a dual molecular diagnosis4, 5

And ordering a bigger test, doesn't mean you'll get back an overwhelming amount of information. Clinical notes are required for our PGmax tests so that our experts can interpret your patient's results based on your clinical notes to ensure they are only reporting variants that may fit your patient's phenotype.

PGmax Tests

Exome-Based and Genome-Based Platforms - How Do They Compare?

All PGmax panels are available on our exome-based or genome-based sequencing platforms. Our exome-based tests cover all coding regions and at least 10 base pairs of the adjoining intronic spaces. Our genome-based test additionally covers intronic and intergenic regions.

CNV Detection

Both sequencing platforms are able to detect copy number variants (CNVs) from the sequencing data, and our genome-based platform can detect the additional structural variants (SVs) of inversion and insertions. PGmax panels automatically include our Exome-wide CNV or Genome-wide SV analysis, which means that these structural changes will not only be detected in the genes on the panel, but across the entire genome. These analyses provide comparable CNV detection to a CMA. Here's what we found:

NGS testing reliability detects CNVs between 100bp-1Mb, a known array blindspot.*

SNV Sensitivity CNV Sensitivity
1 exon 2 exons 3 exons 4 exons
Exome >98% 64%
94% 90% 100%
Genome >99% 92% 100% 100% 100%

How You Can Help Set Testing Up for Success

Your clinical insights are critical for a robust analysis and required for all PGmax tests. Please complete our Phenotype Checklist or provide us with your clinical notes so we can bring your input to the bench.

We strongly urge you to send biological parental samples for a PatientPlus or Trio analysis whenever possible for the highest diagnostic yield. Our positive rate increases when parental comparators are included in the analysis.*

We're Here to Help

Genetic testing is complex, and we're here to support you. Please don't hesitate to reach out to our client services team to ask questions, discuss your test strategy, or to learn more about any of the tests we offer.

References

  1. Xue et al. 2015. PMID: 25232854
  2. Shaw et al. 2023. PMID: 36722519
  3. Clause et al. 2023. PMID:36819666
  4. Posey et al. 2017. PubMed ID: 27959697
  5. Liu et al. 2022. PubMed ID: 35346302

* Data on file

** Most standard panels have a TAT of 3 weeks, but please check the individual test description to confirm. Unlike many of the PGmax panels, our Intellectual Disability, Epilepsy, and Autism (IDEA) Panel has a TAT of 5-7 weeks on average.