What to Order?
Consider ordering a panel when your patient has a known or suspected clinical diagnosis and the causative genes are well-described and available on one of our panels.
Note that gene content on our panels can be customized.
For example, a patient with hypertrophic cardiomyopathy, epilepsy or retinal dystrophy.
Whole Exome Sequencing (WES)
Consider ordering WES when your patient has some of the following:
– A complex phenotype with multiple differential diagnoses
– A genetically heterogeneous disorder
– A suspected genetic disorder but genetic testing is not available
– When previous genetic testing has not been diagnostic
WES requires detailed clinical information. WES can be done on the index patient alone or with one or two family members to improve variant filtering and interpretation.
Family Member Testing (FMT)
Consider ordering FMT when:
– A variant has been identified in a previous family member and you want to determine the genetic status of other family members
– A variant has been identified in your patient and you want to confirm it in a clinical laboratory
– Your patient is part of a genetic isolate and you want to test for a population specific variant
For example, a patient has a confirmed pathogenic FBN1 variant responsible for Marfan syndrome and their family members request testing.
Single Gene Testing
Consider ordering single gene testing:
– When you are highly suspicious that your patient’s symptoms are caused by a particular gene
– When you want to do carrier testing for a couple where one member is known to be a carrier of a variant in a particular gene.
For example, a patient is a known carrier of cystic fibrosis and their partner requests testing to determine their risk to have an affected child.