Introducing PGmaxTM Tests

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An exciting new name for some old favorites – PGmax tests are our comprehensive panels of more than 300 genes. These tests include exome-wide copy number variant (CNV) or genome-wide structural variant (SV) - depending on which platform you choose.

Why Choose Large Panel Tests?

There are many scenarios where a single-gene or smaller panel tests may be appropriate for your patient, including:  

•  When the phenotype is extremely specific (i.e. Achondroplasia, heritable retinoblastoma, etc.)
•  When patient anxiety causes concern for incidental findings or variants of uncertain significance, and you want to lower that possibility
•  When approval or reimbursement is challenging for larger tests

However, for many indications, large genomic tests might be an ideal option. Here's why you might want to consider starting with or reflexing to a larger test: 

•  The “hypothesis-free” nature of WES/WGS and large panels make them a better diagnostic tool for patients with nonspecific features1
•  The true molecular diagnosis can be missed with single-gene or small panel testing
•  Gene curation can be done in real time based on your patient’s individual phenotype rather than relying on the static gene curation of a small panel3 
•  Patients may have a blended phenotype resulting from a dual molecular diagnosis4, 5

And ordering a bigger test, doesn’t mean you’ll get back an overwhelming amount of information. Clinical notes are required for our PGmax tests so that our experts can interpret your patient's results based on your clinical notes to ensure they are only reporting variants that fit your patient's phenotype. Each of our offerings have a PhD geneticist that’s an expert in that specific test.

PGmax Tests

Our comprehensive tests start at $1790.

Intellectual Disability, Epilepsy, and Autism (IDEA) Panel 
Neonatal Crisis Panel 
Comprehensive Epilepsy and Seizure Panel
Comprehensive Inherited Metabolic Disorders and Mitochondrial Disorders Panel 
Comprehensive Movement Disorder Panel
Skeletal Disorders and Joint Problems Panel
Primary Immunodeficiency and Lymphoid Malignancy Predisposition Panel 
Comprehensive Ocular Disorders Panel 
Inborn Errors of Immunity/Primary Immunodeficiency (PID) Panel 
Comprehensive Congenital Heart Disease Panel 
Comprehensive Inherited Kidney Disease Panel

For help ordering or questions on these tests, feel free to contact our team


1. Xue et al. 2015. PMID: 25232854
2. Shaw et al. 2023. PMID: 36722519
3. Clause et al. 2023. PMID:36819666
4. Posey et al. 2017. PubMed ID: 27959697
5. Liu et al. 2022. PubMed ID: 35346302