Panel on Demand

A targeted bioinformatic masking process is applied to next generation sequencing data to limit analysis to a defined set of genes. Panel-on-Demand for ordering a custom set of genes is available, as well as predefined gene panels. The test includes deletion/duplication (del/dup) analysis for all genes in the selected panel. These options allow for either efficient ordering of predefined panels or gene sets customized for a wide range of clinical indications; both approaches offer panel testing while supporting future broader testing options without the need for resequencing.

We offer several options for Panel-on-Demand based on the number of genes that will be tested.

• Hyper Panel on Demand (201-500 genes)
• Super Panel on Demand (101-200 genes)
• Mega Panel on Demand (11-100 genes)
• Micro Panel on Demand (2-10 genes)
• Single Gene Sequencing

Use the web tool at Exome Panel-on-Demand Generator to generate a 6-character code for a custom panel.

Predefined panels are also ordered using the EXPNL test code. For an overview of predefined gene panels, please see EXPNL Predefined Panels Guideline.

Our predefined gene panels include:

The Comprehensive Cardiac Panel - Cardiomyopathy indication is appropriate when a hereditary cause is suspected for a diagnosis of cardiomyopathy, such as Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, or Arrhythmogenic Cardiomyopathy, whether an isolated finding or presenting as part of a syndrome, such as in Noonan syndrome, muscular dystrophies, or metabolic storage diseases.

The Comprehensive Cardiac Panel - Arrhythmia indication is appropriate when a hereditary cause is suspected for a diagnosis of arrhythmia, such as Brugada syndrome, Long QT syndrome, Short QT syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia, or Arrhythmogenic Cardiomyopathy.

The Pulmonary Arterial Hypertension (PAH) Panel is appropriate when a hereditary cause is suspected for a diagnosis of pulmonary arterial hypertension, such as familial PAH, isolated PAH, pediatric pulmonary hypertension, PAH associated hereditary hemorrhagic telangiectasia (HHT), pulmonary veno-occlusive disease (PVOD).