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.
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 gene specific 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.
Variant Specific Testing (VST)
Blueprint Genetics offers two Variant Specific Testing products: Familial Variant Testing and Targeted Variant Testing.
Consider ordering Familial Variant Testing when there is a known variant in a family member, and you want to do:
- Diagnostic testing in affected family members
- Predictive testing in unaffected family members
- Carrier testing in the case of autosomal recessive and X-linked disorders
- Segregation of variants
Consider ordering Targeted Variant Testing for
- Confirmatory analysis of research or direct-to-consumer results
- Testing of published founder or common variants
- Clarification of variant classification for variants reported by another laboratory