testinggenetictestingpracticePMP22duplicationIntroduction: Charcot–Marie–Tooth disease type 1A (CMT1A) is caused by a PMP22 gene duplication. CMT1A has a robust electrical phenotype that can be used to direct genetic testing. We compared specialty CMT center CMT1A diagnosis rates to those of out...
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Snow K, Park WD, Lundquist PA, Vockley CW, Patterson MC, Karnes PS, O'Brien JF (2000) Genetic testing for Niemann- Pick Type C disease. Genet Med 2:107Imhof MO, Chatellard P, Mermod N (2000) A regulatory network for the efficient control of transgene expression . J Gene Med 2 :...
(PhysOrg.com) -- New UCL research shows that genetic testing provides no real help in predicting the risk of developing type 2 diabetes, a major risk factor for heart disease. Ad The findings question the benefit of genetic direct-to-public home screening tests currently available on the mark...
Neurofibromatosis type 2 (NF2) is a genetic condition marked by the development of multiple benign tumors in the nervous system. The most common tumors associated with NF2 are bilateral vestibular schwannoma, meningioma, and ependymoma. The clinical mani
All individuals had received a diagnosis of autoimmune diabetes from their clinician prior to genetic testing. Informed consent was obtained for all adult study participants and informed parental consent was given on behalf of children. Table 1 Summary of the main clinical and demographic features...
We compared HIV-1 strains in incident and prevalent infections in a cohort of men having sex with men (MSM) and female sex workers (FSW) near Mombasa, Kenya and conducted a cross-sectional study of viral isolates from a sample of HIV-1-infected MSM and FSW in Kilifi, Coast Province, ...
Advances in genomic medicine have lead to debate about the potential inclusion of genetic tests for susceptibility to common complex disorders in newborn screening programmes. Empirical evidence concerning psychosocial reactions to genetic testing is a crucial component of both ethical debate and policy de...
A deeper understanding of genetic regulation and functional mechanisms underlying genetic associations with complex traits and diseases is impeded by cellular heterogeneity and linkage disequilibrium. To address these limits, we introduce Huatuo, a framework to decode genetic variation of gene regulation at...