Targeted Variant Testing

The Blueprint Genetics Targeted Variant Testing (test code TVT001):

Read about our accreditations, certifications and CE-marked IVD medical devices here.

• Blood (min. 1ml) in an EDTA tube
• Extracted DNA, min. 2 μg in TE buffer or equivalent
• Saliva (Please see Sample Requirements for accepted saliva kits)

Label the sample tube with your patient’s name, date of birth and the date of sample collection.

We do not accept DNA samples isolated from formalin-fixed paraffin-embedded (FFPE) tissue. In addition, if the patient is affected with a hematological malignancy, DNA extracted from a non-hematological source (e.g. skin fibroblasts) is strongly recommended.

Please note that, in rare cases, mitochondrial genome (mtDNA) variants may not be detectable in blood or saliva in which case DNA extracted from post-mitotic tissue such as skeletal muscle may be a better option.

Read more about our sample requirements here.

• CLIA-certified personnel performing clinical testing in a CLIA-certified laboratory
• Powerful sequencing technologies, advanced target enrichment methods and precision bioinformatics pipelines ensure superior analytical performance
• High resolution CNV detection included if the index patient’s CNV was diagnosed at Blueprint Genetics
• Comprehensive clinical statement

Test limitations

Testing of prenatal samples can be done only in cases where the index patient was tested at Blueprint Genetics. Targeted Variant Testing for CNVs is not available for prenatal samples. MtDNA analysis is not available for Targeted Variant Testing. Alu element repeats are not available for testing in cases where the index patient was tested at another laboratory. Structural variant and repeat expansion testing is not available. Additionally, if you have deep intronic variant detected at another laboratory than Blueprint Genetics, please contact our Support for further information on eligibility.

This test may not reliably detect the following:

• Low level mosaicism
• Stretches of mononucleotide repeats
• Indels larger than 50bp
• Single exon deletions or duplications
• Variants within pseudogene regions/duplicated segments

Our variant specific tests are sectioned from our high-quality, clinical grade NGS assay. Please see our sequencing and detection performance table for details regarding our ability to detect different types of alterations (Table).

Assays have been validated for various sample types including EDTA-blood, isolated DNA (excluding from formalin fixed paraffin embedded tissue), saliva and dry blood spots (filter cards). These sample types were selected in order to maximize the likelihood for high-quality DNA yield. The diagnostic yield varies depending on the assay used, referring healthcare professional, hospital and country. Plus analysis increases the likelihood of finding a genetic diagnosis for your patient, as large deletions and duplications cannot be detected using sequence analysis alone. Blueprint Genetics’ Plus Analysis is a combination of both sequencing and deletion/duplication (copy number variant (CNV)) analysis.

The performance metrics listed below are from an initial validation performed at our main laboratory in Finland. The performance metrics of our laboratory in Marlborough, MA are equivalent.