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 or a genetic counselor: National Society of Genetic Counseling.

Content last modified: 14 July 2022

The easiest way to order is via our online portal, Nucleus. This expedites the ordering and analysis as it ensures that we have all the necessary information to begin the test. With the exception of Flex or custom panels, all of our tests can also be ordered by completing a paper requisition form.  Please visit How to order for more information about the ordering process.

Content last modified: 14 July 2022

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 do not feel comfortable discussing the above with your patient, we recommend that you refer your patient to a genetic counselor. A list of genetic counselors (by region and area of expertise) can be found at www.nsgc.org.

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.

Content last modified: 14 July 2022

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.


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.

Content last modified: 14 July 2022

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.

Content last modified: 14 July 2022