Evidence map›Paper›PMID 41509997›Full record

ArticleKidney medicine2026

Results of Multigene Panel Testing, Including

Erin E Tapper, Johanna M Huusko, Alicia M Scocchia, Kimberly Gall, Mary-Beth Roberts, Manuel Bernal-Quirós, Satu Valo, Inka Saarinen, Matias Rantanen, Tuuli Pietila and 5 more

Abstract read
In one paragraph

Article in Kidney medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Erin E TapperGenetic Counseling Graduate Program, Augustana University, Sioux Falls, SD.
Johanna M HuuskoBlueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
Alicia M ScocchiaBlueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
Kimberly GallBlueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
Mary-Beth RobertsCenter for Personalized Genetic Healthcare, Medical Specialties Institute, Cleveland Clinic, Cleveland, OH.
Manuel Bernal-QuirósBlueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
Satu ValoBlueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
Inka SaarinenBlueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
Matias RantanenBlueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
Tuuli PietilaBlueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
Massimiliano GentileBlueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
Lotta KoskinenBlueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
Meenakshi Mahey KumarBlueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
Samuel MyllykangasBlueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
Juha KoskenvuoBlueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Rationale & Objective: Mounting evidence supports that identifying the specific molecular etiology for individuals with cystic kidney disease (CyKD) is important for prognostication, surveillance, identifying related living donors, and defining familial risk, even in cases in which a clinical diagnosis appears straightforward. In this study, we aimed to investigate the yield of genetic findings and the unique variant characteristics using multigene panel testing (MGPT) in a referral laboratory setting for an unselected population of patients with an indication of CyKD. Study Design: Cross-sectional study. Setting & Participants: A retrospective analysis of 1,235 genetic testing reports from patients with suspected CyKD who pursued MGPT was performed. Findings: A positive result in a gene associated with CyKD was identified in 49.4% (610/1235) of patient reports, identifying 468 unique variants classified as pathogenic or likely pathogenic in 20 unique genes. Variants in Limitations: Genetic analysis was targeted to the genes included on the panel at the time of testing. As new evidence emerges supporting additional gene-disease associations, there is potential for additional positive results. Conclusions: Thoughtful selection of carefully curated MGPT optimized to detect technically challenging variants can identify the molecular etiology in individuals presenting with CyKD. Further investigation of susVUS through segregation analysis in families may contribute to additional positive results.

Indexed as

AD-PKD1chronic kidney diseasecopy number variantcystic kidney diseasegenetic testingmassively parallel sequencingmolecular analysismultigene panel testingnephrogeneticsnephrologynext-generation sequencingPKD1polycystic kidney diseasepseudogenevariant of uncertain significance

Identifiers

PMID41509997
PMCPMC12774731

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.