Genes
Selected genes
Test Guide
Exome Panel on Demand Test Link
For the patient with a rare phenotype, when the constellation of clinical findings is not recognized as part of a known syndrome, yet the clinician investigator would like to investigate a particular set of genes that are known to contribute to a particular phenotype, “panel on demand” sequencing is a cost-efficient and precise approach to diagnostic testing for rare inherited disease. Examples of panels might include a neurodevelopmental gene panel, hereditary cancer panel, cardiomyopathy gene panel or others. Study of the custom panel of genes from the DNA of a single individual is used to identify sequence variants with a very low population frequency, with nucleotide conservation across species and likely pathogenic consequence. Testing of a family trio facilitates filtering of sequence variants and reduces the number of potential candidates by looking for the same sequence alteration in an unaffected parent(s).
There are several options for Panel on Demand based on the number of genes in the Panel:
- 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 https://pod-generator.dlmp.uw.edu/ to add genes to create a custom panel, or to select a single gene for testing.
Specimen Requirements
For current specimen requirements, please go to the Exome Panel on Demand Test Link
CPT Code & Cost
The cost of exome sequencing ranges from $900 to $5000. To receive the most accurate pricing, please contact the Genetics Pre-Authorization Billing group (gpab@uw.edu).
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