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Scientific Expertise

Posters  —  11 February Feb 2019

Mosaic trisomy 2 identified via whole-genome cfDNA screening

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 —  1 January Jan 2019

Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory

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 —  1 December Dec 2018

Advantages, disadvantages and optimization of one-stage and chromogenic factor activity assays in haemophilia A and B

Read More about Advantages, disadvantages and optimization of one-stage and chromogenic factor activity assays in haemophilia A and B
 —  1 December Dec 2018

A pathophysiologic approach combining genetics and insulin resistance to predict the severity of nonalcoholic fatty liver disease

Read More about A pathophysiologic approach combining genetics and insulin resistance to predict the severity of nonalcoholic fatty liver disease
Posters  —  1 December Dec 2018

Activity of a FIX-Padua transgene product in commonly used FIX:C one-stage clot and chromogenic assay systems following PF-06838435 (SPK-9001) gene delivery

Read More about Activity of a FIX-Padua transgene product in commonly used FIX:C one-stage clot and chromogenic assay systems following PF-06838435 (SPK-9001) gene delivery
Posters  —  27 November Nov 2018

HIV-1 DNA resistance testing informs the successful switch to a single tablet regimen

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Posters  —  15 November Nov 2018

Development of a sensitive multiplex assay for detection of mutations in IDH1 and IDH2

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Posters  —  14 November Nov 2018

Exploring positive diagnostic results after receiving “aneuploidy suspected” screen results via non-invasive prenatal screening

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Posters  —  14 November Nov 2018

Pregnancy outcome information after receiving an “aneuploidy suspected” screen result via non-invasive prenatal screening

Read More about Pregnancy outcome information after receiving an “aneuploidy suspected” screen result via non-invasive prenatal screening
Posters  —  14 November Nov 2018

Genome wide cfDNA testing: Clinical laboratory experience screeningfor select microdeletions

Read More about Genome wide cfDNA testing: Clinical laboratory experience screeningfor select microdeletions
Posters  —  14 November Nov 2018

Genetic counseling for carrier screening and prenatal diagnosis involving a Tay-Sachs disease variant of uncertain significance and possible pseudodeficiency allele in the East Asian population

Read More about Genetic counseling for carrier screening and prenatal diagnosis involving a Tay-Sachs disease variant of uncertain significance and possible pseudodeficiency allele in the East Asian population
Posters  —  14 November Nov 2018

Prenatal detection of a cryptic derivative chromosome: Association of ultrasound findings with an imprinted region

Read More about Prenatal detection of a cryptic derivative chromosome: Association of ultrasound findings with an imprinted region