FAQs

Our genetic tests can only be ordered by healthcare professionals. If you are a patient interested in genetic testing, please discuss your options with a local healthcare professional.

Prior to ordering the genetic test, we recommend that the healthcare professional discusses the following with their patient:

• The purpose of the test
• The possible test results (positive, negative and results of uncertain significance), what these mean and their implications
• Possible incidental findings and their implications
• That test results may reveal information about a patient family members’ health and/or family relationships

If you are unsure about which test to order for your patient, please review the different genetic tests we have available for your patient by clicking on the Diagnostic Tests link in the website top menu bar. Each page includes a short description of the test, a list of genes and regions covered, test performance and potential limitations. You can also visit What to order.

If your patient’s phenotype is unclear and/or you are still unsure about which test to order, you can contact our Clinical Genetics Support team for further assistance. Please do not include any patient identifying information in your email. We aim to respond to all emails within one business day.

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 while other panels are much larger (eg, over 100 genes) and are most appropriate for patients with complex phenotypes or challenging differential diagnostics.

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. FLEX panels can also be named and saved for later use within the user’s Nucleus account. The name of the saved panel will be only visible to the user.

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.

All of our tests include both sequencing and deletion/duplication (CNV) analysis. This is referred to as Plus Analysis. 

Sequence analysis is used to detect single nucleotide variants and small insertions/deletions, up to 50-200 base pairs in size. Del/Dup (CNV) analysis is a targeted analysis used to detect larger disease-causing deletions or duplications (typically one exon or larger).

Plus Analysis is the most comprehensive approach and provides the highest overall diagnostic yield, as large deletions and duplications cannot be detected using sequence analysis alone.

Consider using another panel or expanding to Whole Exome Sequencing. If your patient’s previous genetic testing (panel, single gene test) is inconclusive or there is a diagnostic finding that doesn’t explain the whole phenotype, you can provide your patient with the most comprehensive genetic test with Expand to Exome.

For WES orders, Blueprint Genetics also provides a re-evaluation service that revisits reported VUS and LP variants from a previous WES order. A more extensive WES Re-analysis including fully new bioinformatics and a full interpretation is also available. The goal is to potentially find new clinically relevant variants, for example in light of new phenotypic information from the patient. Read more about re-evaluation and re-analysis here.