(490 days)
The POMC/PCSK1/LEPR CDx Panel is a next generation sequencing (NGS)-based in vitro diagnostic test that analyzes genomic DNA isolated from blood or saliva. Specimens used with the test are K-EDTA blood collected using certain indicated K-EDTA blood collection devices and saliva collected using ORAcollect-Dx™ OCD-100 devices. The test detects germline nucleotide substitutions, short insertions and deletions, and copy number variants (CNVs) within the following 3 genes:
- Pro-opiomelanocortin (POMC) .
- Proprotein Convertase Subtilisin/Kexin type 1 (PCSKI) .
- Leptin Receptor (LEPR) .
The test is a companion diagnostic device intended to select adult and pediatric patients 6 years of age and older who have obesity and certain variants in POMC, PCSKI or LEPR genes for treatment with IMCIVREE® (setmelanotide) in accordance with the approved therapeutic product labeling. The POMC/PCSK1/LEPR CDx Panel is a single-site assay performed at PreventionGenetics, LLC (Marshfield, WI).
The POMC/PCSK1/LEPR CDx Panel is a next generation sequencing (NGS) assay for the detection of germline variants in three genes (pro-opiomelanocortin (POMC), leptin receptor (LEPR), and convertase subtilisin/kexin type 1 (PCSK1)). The POMC/PCSK1/LEPR CDx Panel is performed in a single laboratory (PreventionGenetics, LLC in Marshfield, WI).
Acceptance Criteria and Device Performance for POMC/PCSK1/LEPR CDx Panel
The POMC/PCSK1/LEPR CDx Panel is a next-generation sequencing (NGS)-based in vitro diagnostic test for detecting germline variants in POMC, PCSK1, and LEPR genes, intended to select patients for treatment with IMCIVREE (setmelanotide). The acceptance criteria primarily revolve around the analytical performance of the device, focusing on accuracy, precision, and specificity.
1. Table of Acceptance Criteria and Reported Device Performance
Given the nature of the device (a genetic variant detection system), the acceptance criteria are generally established through analytical performance metrics like Positive Percent Agreement (PPA), Negative Percent Agreement (NPA), and Overall Percent Agreement (OPA) when compared to validated orthogonal methods.
| Acceptance Criteria (Metric, Threshold) | Reported Device Performance (Value, 95% CI) | Study Name |
|---|---|---|
| Analytical Accuracy (Method Comparison) | ||
| PPA (Variant/Non-variant base level) | 100% (99.85%, 100.00%) | Method Comparison Study |
| NPA (Variant/Non-variant base level) | 100% (99.99%, 100.00%) | Method Comparison Study |
| OPA (Variant/Non-variant base level) | 100% (99.99%, 100.00%) | Method Comparison Study |
| PPA (Clinical Bridging - Local Test vs. Device, Pivotal Subjects) | 100% (84.5%, 100.0%) | Clinical Bridging Study |
| PPA (Clinical Bridging - Local Test vs. Device, Pivotal + Supplemental Subjects) | 96.7% (83.3%, 99.4%) | Clinical Bridging Study |
| Analytical Precision (Reproducibility) | ||
| OPA (Whole Blood, Variant/Non-variant base level) | 100% (100.00%, 100.00%) | Precision Study (additional runs) |
| PPA (Whole Blood, Variant/Non-variant base level) | 100% (99.72%, 100.00%) | Precision Study (additional runs) |
| NPA (Whole Blood, Variant/Non-variant base level) | 100% (100.00%, 100.00%) | Precision Study (additional runs) |
| OPA (Saliva, Variant/Non-variant base level) | 100% (100.00%, 100.00%) | Precision Study (additional runs) |
| PPA (Saliva, Variant/Non-variant base level) | 100% (99.72%, 100.00%) | Precision Study (additional runs) |
| NPA (Saliva, Variant/Non-variant base level) | 100% (100.00%, 100.00%) | Precision Study (additional runs) |
| Analytical Specificity (Interference) | ||
| Sequence Agreement (Blood substances) | b(4) % (exact value redacted) | Interference Study |
| Sequence Agreement (Saliva substances) | b(4) % (exact value redacted) | Interference Study |
| Sequence Agreement (DNA extraction components) | b(4) % (exact value redacted) | Interference Study |
| Analytical Specificity (Cross-contamination) | ||
| Percentage contamination (ART |
N/A