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Explore What’s New: Updates to our Neurology and Neuromuscular Genetic Test Menus

October 10, 2025
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In our ongoing pursuit of delivering precise and actionable genetic insights, we've refined our neurology and neuromuscular genetic testing menus. These updates are designed to align with professional guidelines and the latest in clinical practice and research.

Our menu features numerous condition-specific panels. While this offers breadth, it can also introduce complexity—particularly in areas with overlapping phenotypes and genetic causes. Our updated menu simplifies this landscape by merging panels with shared gene content, retiring those with limited use, and renaming others for greater clinical clarity.

This restructured approach empowers clinicians to more easily select the most relevant test for their patients, supported by panels that are both evidence-based and optimized for diagnostic effectiveness.

Consolidated panels for broader insight

To reduce redundancy and improve diagnostic yield, several panels with narrowly focused presentations have been retired. The conditions these panels were focused on are encompassed within broader, more inclusive panels.

Retired panels and recommended alternatives:

 

Updated and renamed panels

Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Panel is now the Neurodegeneration with Brain Iron Accumulation Panel (Test #2695), reflecting a simplified and inclusive naming approach.

 

A range of panel sizes for diverse clinical needs

Despite consolidation, our test menu continues to support a wide spectrum of neurological and neuromuscular conditions. Panels are available in various sizes to accommodate different diagnostic strategies:

  • CMT Comprehensive Panel – >80 genes; covers axonal and demyelinating forms of Charcot-Marie-Tooth (CMT)
  • Hereditary Spastic Paraplegia Comprehensive Panel – >100 genes; covers pure and complex forms of HSP
  • Comprehensive Brain Malformation Panel – >300 genes; covers structural brain anomalies, including microcephaly and macrocephaly
  • PGmax – Comprehensive Epilepsy & Seizure Panel – >1400 genes; covers broad spectrum of non-syndromic and syndromic epilepsies
  • PGmax IDEA Panel – >2500 genes; covers intellectual disability and developmental delay

PGmax panels: comprehensive yet targeted

Our PGmax panels demonstrate that even large, comprehensive panels can yield focused, clinically relevant results when interpreted through a phenotype-driven lens. For instance, the PGmax panel for comprehensive movement disorders operates similarly to phenotype-guided exome tests. Clinicians provide detailed phenotypic data, and our team evaluates all variants in that context—reporting only those with clear clinical relevance.

This approach minimizes the reporting of variants of uncertain significance (VUS),1 enabling more confident clinical decision-making.

Explore our neurology and neuromuscular PGmax panels:*

*Upgrade to genome platform for inclusion of repeat expansions where applicable

Bringing clarity to complexity in neurology and neuromuscular testing

These updates reflect our commitment to simplifying the genetic testing process while expanding clinical insight. By consolidating overlapping panels, refining test names, and including broader, phenotype-driven options like PGmax panels, we’re helping clinicians navigate complex neurological conditions with greater confidence and precision.

Whether you're managing a straightforward case or a diagnostically challenging one, our updated test menu is designed to support you every step of the way.

 

References

  1. Rehm et al. 2023. PubMed ID: 37534744