Targeted Variant Testing

New
Summary
  • 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

With Targeted Variant Testing, you can order for up to 10 variants per order for a fixed price.

Blueprint Genetics will only report the variant(s) of interest. If the individual being tested is suspected of being affected by an inherited disorder then another more comprehensive test (single gene, panel, WES) may be appropriate.

Please contact your local Genetic Services Consultant or our Customer Support team to assist with ordering. We are here to help you!

Availability

4 weeks

Test code

TVT001

Summary

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

Sample Requirements

  • Blood (min. 1ml) in an EDTA tube
  • Extracted DNA, min. 2 μg in TE buffer or equivalent
  • Saliva (Oragene DNA OG-500 kit/OGD-500 or OG-575 & OGD-575)

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

Note that we do not accept DNA samples isolated from formalin-fixed paraffin-embedded (FFPE) tissue. Read more about our sample requirements here.

  • 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

With Targeted Variant Testing, you can order for up to 10 variants per order for a fixed price.

Blueprint Genetics will only report the variant(s) of interest. If the individual being tested is suspected of being affected by an inherited disorder then another more comprehensive test (single gene, panel, WES) may be appropriate.

Please contact your local Genetic Services Consultant or our Customer Support team to assist with ordering. We are here to help you!

  • 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

CNV analysis and testing of prenatal samples can be done only in cases where the index patient was tested at Blueprint Genetics. 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
  • Log in to our online portal Nucleus at nucleus.blueprintgenetics.com for the easiest way to order and access results.
  • Fill out both the consent and requisition forms.
  • Send the sample to Blueprint Genetics.
    • Sample Requirements:
      • Blood (min. 1ml) in an EDTA tube
      • Extracted DNA, min. 2 μg in TE buffer or equivalent
      • Saliva (Oragene DNA OG-500 kit/OGD-500 or OG-575 & OGD-575)
      • Read more about our sample requirements
    • Sending a positive control sample from the index patient is not required.

Targeted Variant Testing is based on Next Generation Sequencing (NGS) technology and/or Sanger sequencing and qPCR.

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