FAQs

Single Gene Testing

This test involves the sequence and CNV analysis of a single gene. It is most appropriate in situations where the patient’s diagnosis is most likely caused by a variant in a specific gene, or if you would like to perform carrier testing for reproductive planning.

Panels

A panel is a genetic test that contains a subset of genes related to a specific phenotype or diagnosis. Some panels contain fewer genes and are most appropriate when a specific diagnosis is suspected. Some panels are much larger (eg, over 100 genes) and are most appropriate for patients with complex phenotypes or multiple differential diagnoses.

Healthcare professionals can customize our panels by adding up to 200 genes from any of our >4,000 clinically relevant genes or by removing genes until a minimum of 2 remain. This is called a FLEX panel. 

Mitochondrial DNA analysis

Blueprint Genetics’ mtDNA testing includes sequencing and copy number variant analysis of the entire mitochondrial genome (37 genes), which can be ordered alone or added to any panel. It has also been added to 30 existing panels where the addition of mitochondrial DNA testing is expected to have an impact on the diagnostic yield. The mitochondrial genome is also available as its own test for patients with findings indicating mitochondrial disease or with previous negative nuclear DNA sequencing results. Read more about mtDNA testing here. 

Whole Exome Sequencing

Whole Exome Sequencing (WES) is our most comprehensive test option. WES is the analysis of the protein coding regions of all ~20,000 genes of the human genome (known as the exome) using next-generation sequencing technologies.

WES is most suitable for individuals with:

• A complex, non-specific genetic disorder with multiple differential diagnoses
• A genetically heterogeneous disorder where stepwise testing of genes significantly increases costs
• A suspected genetic disorder where a specific genetic test is not available
• Previous genetic testing that has not been diagnostic

Our Whole Exome Family includes high-quality Whole Exome sequence and CNV analysis of an index patient and parents (trio) or other family members. The trio approach used in the Whole Exome Family test increases the diagnostic yield by improving the variant filtering and readily enabling the detection of de novo variants, which are the cause of many severe, early onset diseases.

If samples are received for the index patient and one or more family members, all variants and segregation analysis relating to the cause of the index patient’s phenotype are reported in the index patient’s report. 

Secondary findings for family members participating in WES are reported in separate, individual reports if the family member chooses to receive this information. 

Variant Specific Testing

The Variant Specific Testing service provides targeted testing to the relatives of patients previously tested at Blueprint Genetics and in whom a variant has been identified.

Variant Specific Testing can be used for:

• Diagnostic testing in affected family members
• Predictive testing in unaffected family members
• Carrier testing in the case of autosomal recessive (AR) and X-linked disorders
• Segregation of variants of uncertain significance (VUS) where appropriate
• Confirmation of research results

Variant Specific Testing takes approximately 3-4 weeks from the time the sample and all required information is received. Read more here.

VUS Clarification Service

Blueprint Genetics provides a free-of charge service that is available to patients tested at Blueprint Genetics and found to have a variant of uncertain significance (VUS) that could potentially be reclassified to likely pathogenic on the basis of family member testing. Read more about the service here.