One gene panel. Three diagnoses sorted out. No guessing.

One gene panel. Three diagnoses sorted out. No guessing.

Memories fail. There’s a tremor that refuses to go away. A word that cannot be recalled. For people progressing towards Alzheimer’s, Parkinson’s or dementia, the symptoms are so similar that even experienced doctors are left having to test one gene after another after another — searching for an answer for months while a family remains in a state of uncertainty.

The process is known as the diagnostic odyssey, and Genes2Me has developed a panel in order to put an end to it.

The Problem With Testing One Disease at a Time

The problem with neurodegenerative diseases is that they don’t present themselves in a clear way. Early cognitive decline may appear to be Alzheimer’s, or Parkinson’s disease, or a number of other conditions, and the genes responsible for one disorder are often found during the investigation of another. If single-gene tests are carried out one after another, this takes up weeks or even years while each condition is ruled out in turn.

Is there a smarter method? Yes, test all the relevant factors at once using a single blood sample.

Meet the APD NGS Panel

The Alzheimer Parkinson Dementia panel produced by Genes2Me is an NGS assay based on hybridization which has been designed specifically to achieve this objective – offering a comprehensive analysis, delivering quick results, and being developed for use in the clinic rather than just on the laboratory bench.

What’s under the hood:

•  139 clinically relevant genes, spanning ~101 gene families

•  Whole coding sequence (CDS) coverage — no shortcuts, no missed hotspots

•  The target size is 0.39 Mb for high depth and a fast turnaround.

•  Detects SNVs, InDels and CNVs — the mutation types that matter most

•  Runs from a simple blood sample — no invasive procedures

Numbers That Back Up Every Report

The quality of a panel depends on the data available. Performance of the APD assay (on the Illumina platform):

Metric Result

•  Coverage uniformity – >99%

•  Reproducibility – 97%

•  Sensitivity – 97.2%

•  On-target ratio – >78%

The translation provides complete and consistent coverage of all 139 genes, which means that laboratories are able to give definite answers rather than having to say ‘insufficient coverage, please re-test’.

Why It Matters, Beyond the Spec Sheet

There is one panel and one report, making a real difference to those who need it:

•     Faster answers — replace sequential single-gene tests with one comprehensive run

•     Family peace of mind — clearer risk insight for relatives of early-onset or familial cases

•    Smarter care planning — many next-gen therapies are now genotype-specific, so knowing the gene matters

•     Less cost, less waiting — one blood draw beats months of trial-and-error testing

Part of a Bigger Story

The APD panel is not an isolated offering; it is part of Genes2Me’s Targeted Disorders range, which also includes our Cardiovascular NGS Assay panel (357 genes) and Neuromuscular NGS Assay Panel (497 genes). All of these panels have the same DNA — though that’s a bit of a pun.

•      Platform-agnostic — runs on Illumina and other major sequencers

•     CE-IVD certified — validated manufacturing, validated quality

•     Powered by Cliseq Interpreter — our FASTQ-to-report bioinformatics engine, cloud or on-site

The Takeaway

With the global population getting older, the number of cases of Alzheimer’s, Parkinson’s and dementia will only increase – and diagnostic laboratories must become quicker than the rise in disease cases. A comprehensive and validated NGS panel such as APD is not only a superior test; it also represents a better approach to diagnosis since it is based on how patients actually present rather than on the way diseases are neatly categorised in a textbook.

If your lab wants to stop using fragmented single-gene testing and instead go with a single definite answer, then the APD NGS panel is the one to choose.